Beginning early March 2015, the GWAS Catalog infrastructure will be migrating to the European Bioinformatics Institute (EMBL-EBI). Content prior to this time will continue to be available on this NHGRI web page, but additional content updates will be limited. We will provide updates here as they are available; interested users can receive e-mail updates from firstname.lastname@example.org. To subscribe, please send an e-mail to email@example.com with subject heading "subscribe."
Update (2/19/15): Curation of GWAS papers will be temporarily on hold beginning 2/20/15 while the GWAS Catalog infrastructure transitions to the EMBL-EBI. We expect curation to resume in early March, at which time updated content will be available at EMBL-EBI.
Current uses of and future directions for the Genome-Wide Association Studies Catalog
On Thursday, July 18th, 2013, the Division of Genomic Medicine held a webinar to highlight current uses and explore priorities and future directions for the GWAS catalog. See archived video and presentations.
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Click here to read our recent article from the Nucleic Acids Research Database Issue.
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
Click here to read our Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.
The genome-wide association study (GWAS) publications listed here include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content. GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria. Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible. Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).
Gene names and risk alleles are those reported by the authors in the original paper. Only one SNP within a gene or region of high linkage disequilibrium is recorded unless there was evidence of independent association.
Occasionally the term "pending" is used to denote one or more studies that we identified as an eligible GWAS, but for which SNP information has not yet been extracted; studies of CNVs are also noted as pending
How to cite the NHGRI GWAS Catalog:
Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed [date of access].
How to cite the NHGRI GWAS Catalog paper:
Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A, Flicek P, Manolio T, Hindorff L, and Parkinson H. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 2014, Vol. 42 (Database issue): D1001-D1006.
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|As of 02/20/15, the catalog includes 2111 publications and 15396 SNPs.|
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Last Updated: February 20, 2015