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Keywords {🔍}

ancestry, catalog, data, gwas, pubmed, studies, populations, article, samples, individuals, google, scholar, additional, information, categories, associations, category, authors, framework, genetic, detailed, table, human, cas, file, population, central, diversity, included, methods, european, genomics, description, african, american, genet, sample, search, standardized, application, ancestral, genomic, study, fig, published, hispanic, latin, multiple, provided, country,

Topics {✒️}

genome-wide association study genome-wide association studies uk/pub/databases/gwas/releases/2017/07/18/ uk/gwas/docs/file-downloads org/unsd/methodology/m49/ /pub/databases/gwas/releases/2017/07/18/ gwas-catalog-associations_ontology-annotated gwas-efo-trait-mappings nhgri-ebi gwas catalog kang-sickel j-cc aboriginal australian y-chromosomes award numbers u41-hg007823 article download pdf uk/ols/ontologies/ancestro gov/library/publications/resources/ danielle welter ancestry-specific ontology based fine-scale individual assignment central asian populations internal curation interface uk/gwas/search nhgri gwas catalog multi-ancestry detailed descriptions wellcome genome campus aboriginal australian population underlying genetics ancestry-informative detailed descriptions privacy choices/manage cookies world-factbook/index gwas catalog curation nhgri-ebi catalog african-admixed populations offers order amish participants �trans-ethnic” discoveries translational research spectrum genomic association data creative commons license genetically isolated population homogenous irish population full size image discover additional disease gwas catalog—3200 publications gwas catalog website gwas-catalog-studies_ontology gwas catalog publications global human population gwas catalog studies gwas-catalog-ancestry gwas catalog ancestry precise search functionalities

Questions {❓}

• Uk/gwas/search?

Schema {🗺️}

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         headline:A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
         description:The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the representation of ancestry information. Here we describe a framework for the accurate and standardized description of sample ancestry, and validate it by application to the NHGRI-EBI GWAS Catalog. We confirm known biases and gaps in diversity, and find that African and Hispanic or Latin American ancestry populations contribute a disproportionately high number of associations. It is our hope that widespread adoption of this framework will lead to improved analysis, interpretation, and integration of human genomics data.
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            Genome-wide association studies
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            Ancestry
            Diversity
            Population genetics
            Animal Genetics and Genomics
            Human Genetics
            Plant Genetics and Genomics
            Microbial Genetics and Genomics
            Bioinformatics
            Evolutionary Biology
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      description:The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no established guidelines for the representation of ancestry information. Here we describe a framework for the accurate and standardized description of sample ancestry, and validate it by application to the NHGRI-EBI GWAS Catalog. We confirm known biases and gaps in diversity, and find that African and Hispanic or Latin American ancestry populations contribute a disproportionately high number of associations. It is our hope that widespread adoption of this framework will lead to improved analysis, interpretation, and integration of human genomics data.
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         Genome-wide association studies
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         Diversity
         Population genetics
         Animal Genetics and Genomics
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         Plant Genetics and Genomics
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         Evolutionary Biology
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               name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
               type:PostalAddress
            type:Organization
      name:Paul Flicek
      affiliation:
            name:European Bioinformatics Institute, Wellcome Genome Campus
            address:
               name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
               type:PostalAddress
            type:Organization
      name:Helen Parkinson
      affiliation:
            name:European Bioinformatics Institute, Wellcome Genome Campus
            address:
               name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
               type:PostalAddress
            type:Organization
      name:Fiona Cunningham
      affiliation:
            name:European Bioinformatics Institute, Wellcome Genome Campus
            address:
               name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
               type:PostalAddress
            type:Organization
      name:Lucia A. Hindorff
      affiliation:
            name:National Human Genome Research Institute, National Institutes of Health
            address:
               name:Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, USA
               type:PostalAddress
            type:Organization
      name:Jacqueline A. L. MacArthur
      affiliation:
            name:European Bioinformatics Institute, Wellcome Genome Campus
            address:
               name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, USA
      name:Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, USA
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK
      name:Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, USA
      name:European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK

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