Pulse Brain · Growing Health Evidence Index
Peer-reviewed

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

María Cerezo, Elliot Sollis, Yue Ji, Elizabeth Lewis, Ala Abid, Karatuğ Ozan Bircan, Peggy Hall, James Hayhurst, Sajo John, Abayomi Mosaku, Santhi Ramachandran, Amy Foreman, Arwa Ibrahim, James Alastair McLaughlin, Zoë May Pendlington, Ray Stefancsik, Samuel A. Lambert, Aoife McMahon, Joannella Morales, Thomas Keane, Michael Inouye, Helen Parkinson, Laura W. Harris

Nucleic Acids Research · 2024

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Summary

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 pr

Source type
Peer-reviewed study
DOI
10.1093/nar/gkae1070
Catalogue ID
SNmoj44ckf-hcw1mu
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