The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

Elliot Sollis(European Bioinformatics Institute), Abayomi Mosaku(European Bioinformatics Institute), Ala Abid(European Bioinformatics Institute), Annalisa Buniello(Open Targets), María Cerezo(European Bioinformatics Institute), Laurent Gil(University of Cambridge), Tudor Groza(European Bioinformatics Institute), Osman Güneş(European Bioinformatics Institute), Peggy Hall(National Institutes of Health), James Hayhurst(European Bioinformatics Institute), Arwa Ibrahim(European Bioinformatics Institute), Yue Ji(European Bioinformatics Institute), Sajo John(European Bioinformatics Institute), Elizabeth Lewis(European Bioinformatics Institute), Jacqueline A. L. MacArthur(European Bioinformatics Institute), Aoife McMahon(European Bioinformatics Institute), David Osumi-Sutherland(European Bioinformatics Institute), Kalliope Panoutsopoulou(European Bioinformatics Institute), Zoë May Pendlington(European Bioinformatics Institute), Santhi Ramachandran(European Bioinformatics Institute), Ray Stefancsik(European Bioinformatics Institute), Jonathan Stewart(European Bioinformatics Institute), Patricia L. Whetzel(European Bioinformatics Institute), Robert Wilson(European Bioinformatics Institute), Lucia A. Hindorff(National Institutes of Health), Fiona Cunningham(European Bioinformatics Institute), Samuel A. Lambert(European Bioinformatics Institute), Michael Inouye(Baker Heart and Diabetes Institute), Helen Parkinson(European Bioinformatics Institute), Laura W. Harris(European Bioinformatics Institute)
Nucleic Acids Research
November 9, 2022
10.1093/nar/gkac1010
Cited by 1,701Open Access
Full Text

Abstract

The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industry. The Catalog contains variant-trait associations and supporting metadata for >45 000 published GWAS across >5000 human traits, and >40 000 full P-value summary statistics datasets. Content is curated from publications or acquired via author submission of prepublication summary statistics through a new submission portal and validation tool. GWAS data volume has vastly increased in recent years. We have updated our software to meet this scaling challenge and to enable rapid release of submitted summary statistics. The scope of the repository has expanded to include additional data types of high interest to the community, including sequencing-based GWAS, gene-based analyses and copy number variation analyses. Community outreach has increased the number of shared datasets from under-represented traits, e.g. cancer, and we continue to contribute to awareness of the lack of population diversity in GWAS. Interoperability of the Catalog has been enhanced through links to other resources including the Polygenic Score Catalog and the International Mouse Phenotyping Consortium, refinements to GWAS trait annotation, and the development of a standard format for GWAS data.

Related Papers

No related papers found

Powered by citation graph analysis