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A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog.
Morales, Joannella; Welter, Danielle; Bowler, Emily H; Cerezo, Maria; Harris, Laura W; McMahon, Aoife C; Hall, Peggy; Junkins, Heather A; Milano, Annalisa; Hastings, Emma; Malangone, Cinzia; Buniello, Annalisa; Burdett, Tony; Flicek, Paul; Parkinson, Helen; Cunningham, Fiona; Hindorff, Lucia A; MacArthur, Jacqueline A L.
Affiliation
  • Morales J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. jmorales@ebi.ac.uk.
  • Welter D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Bowler EH; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Cerezo M; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Harris LW; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • McMahon AC; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Hall P; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892-9305, USA.
  • Junkins HA; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892-9305, USA.
  • Milano A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Hastings E; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Malangone C; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Buniello A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Burdett T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Parkinson H; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Cunningham F; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Hindorff LA; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892-9305, USA.
  • MacArthur JAL; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. jalm@ebi.ac.uk.
Genome Biol ; 19(1): 21, 2018 02 15.
Article in En | MEDLINE | ID: mdl-29448949
ABSTRACT
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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Full text: 1 Database: MEDLINE Main subject: Genomics / Genome-Wide Association Study Limits: Humans Language: En Journal: Genome Biol Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2018 Type: Article Affiliation country: United kingdom
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Full text: 1 Database: MEDLINE Main subject: Genomics / Genome-Wide Association Study Limits: Humans Language: En Journal: Genome Biol Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2018 Type: Article Affiliation country: United kingdom