articleNucleic Acids ResearchOct 22, 2024GOLD OA

The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity

European Bioinformatics Institute · National Institutes of Health · +6 more institutions

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Abstract

The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most comprehensive database of human GWAS results. Currently, it contains close to 7 000 publications for >15 000 traits, from which more than 625 000 lead associations have been curated. Additionally, 85 000 full genome-wide summary statistics datasets-containing association data for all variants in the analysis-are available for downstream analyses such as meta-analysis, fine-mapping, Mendelian randomisation or development of polygenic risk scores. As a centralised repository for GWAS results, the GWAS Catalog sets and implements standards for data submission and harmonisation, and encourages the…

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Authors

23

Topics & keywords

Keywords
  • Biology
  • Reusability
  • Diversity (politics)
  • Sustainability
  • Computational biology
  • Data science
  • World Wide Web
  • Ecology
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