GWAS Catalog¶
Resource Location
/labs/SysMedBio/Q/Resources/Genomics/GWAS_Catalog
/Volumes/lab/SysMedBio/Resources/Genomics/GWAS_Catalog
Q:\SysMedBio\Resources\Genomics\GWAS_Catalog
The GWAS Catalog is a curated, searchable, and open-access repository of all published genome-wide association studies (GWAS).
Scientific Context¶
Genome-Wide Association Studies scan genetic markers (usually Single Nucleotide Polymorphisms, or SNPs) across the genomes of large populations to locate variants associated with particular diseases, traits, or clinical measures.
The NHGRI-EBI GWAS Catalog is a crucial resource for the scientific community that enables: - Variant-to-Phenotype Mapping: Systematically recording association statistics (p-values, odds ratios, effect sizes, risk alleles) between SNPs and traits. - Trait Standardization: Mapping traits to the Experimental Factor Ontology (EFO) to standardize phenotypes, enabling researchers to query across diverse studies. - Translational Research Support: Aiding in identifying downstream pathways, exploring pleiotropy (variants affecting multiple traits), developing Polygenic Scores (PGS), and identifying therapeutic drug targets.
Main Publication¶
- Title: The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity
- Authors: Maria 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 McLaughlin, Zoë Pendlington, Ray Stefancsik, Samuel A. Lambert, Aoife McMahon, Joannella Morales, Thomas Keane, Michael Inouye, Helen Parkinson, Laura W. Harris
- Journal: Nucleic Acids Research (2025, Vol 53, Issue D1, Pages D998–D1005)
- DOI: 10.1093/nar/gkae1070
Available Files¶
The GWAS Catalog directory contains the following processed datasets (downloaded May 13, 2026):
GWAS_catalog_2026_05_13.zip: The raw, zipped archive of the downloaded association data.gwas-catalog-download-associations-sorted-alt-full-clean-sorted.tsv: The uncompressed, filtered, and sorted table of variant-trait associations.gwas-catalog-download-associations-sorted-alt-full-clean-sorted.tsv.gz: The bgzipped (compressed) version of the sorted association dataset.gwas-catalog-download-associations-sorted-alt-full-clean-sorted.tsv.gz.tbi: The Tabix index file enabling fast coordinate queries for the associations dataset.gwas-catalog-v1.0.3.1-ancestries-r2026_05_13.tsv.gz: Gzipped ancestry metadata containing cohort demographics and population classifications for cataloged studies.gwas-catalog-v1.0.3.1-studies-r2026_05_13.tsv.gz: Gzipped study metadata, detailing sample sizes, traits investigated, publication dates, and journal information.