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

María Cerezo(European Bioinformatics Institute), Elliot Sollis(European Bioinformatics Institute), Yue Ji(European Bioinformatics Institute), Elizabeth Lewis(European Bioinformatics Institute), Ala Abid(European Bioinformatics Institute), Karatuğ Ozan Bircan(European Bioinformatics Institute), Peggy Hall(National Institutes of Health), James Hayhurst(Open Targets), Sajo John(European Bioinformatics Institute), Abayomi Mosaku(European Bioinformatics Institute), Santhi Ramachandran(European Bioinformatics Institute), Amy Foreman(European Bioinformatics Institute), Arwa Ibrahim(European Bioinformatics Institute), James Alastair McLaughlin(European Bioinformatics Institute), Zoë May Pendlington(European Bioinformatics Institute), Ray Stefancsik(European Bioinformatics Institute), Samuel A. Lambert(European Bioinformatics Institute), Aoife McMahon(European Bioinformatics Institute), Joannella Morales(National Institutes of Health), Thomas Keane(European Bioinformatics Institute), Michael Inouye(Baker Heart and Diabetes Institute), Helen Parkinson(European Bioinformatics Institute), Laura W. Harris(European Bioinformatics Institute)
Nucleic Acids Research
October 22, 2024
10.1093/nar/gkae1070
Cited by 324Open Access
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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 use of consistent descriptors for traits, samples and methodologies. We share processes and vocabulary with the PGS Catalog, improving interoperability for a growing user group. Here, we describe the latest changes in data content, improvements in our user interface, and the implementation of the GWAS-SSF standard format for summary statistics. We address the challenges of handling the rapid increase in large-scale molecular quantitative trait GWAS and the need for sensitivity in the use of population and cohort descriptors while maintaining data interoperability and reusability.

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