The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

Danielle Welter(National Institutes of Health), Jacqueline A. L. MacArthur(Wellcome Trust), Joannella Morales(National Institutes of Health), Tony Burdett(National Human Genome Research Institute), Peggy Hall(Wellcome Trust), Heather Junkins(Wellcome Trust), Alan Klemm(National Human Genome Research Institute), Paul Flicek(European Bioinformatics Institute), Teri A. Manolio(Wellcome Trust), Lucia A. Hindorff(National Institutes of Health), Helen Parkinson(National Institutes of Health)
Nucleic Acids Research
December 6, 2013
10.1093/nar/gkt1229
Cited by 2,919Open Access
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Abstract

The National Human Genome Research Institute (NHGRI) Catalog of Published Genome-Wide Association Studies (GWAS) Catalog provides a publicly available manually curated collection of published GWAS assaying at least 100,000 single-nucleotide polymorphisms (SNPs) and all SNP-trait associations with P <1 × 10(-5). The Catalog includes 1751 curated publications of 11 912 SNPs. In addition to the SNP-trait association data, the Catalog also publishes a quarterly diagram of all SNP-trait associations mapped to the SNPs' chromosomal locations. The Catalog can be accessed via a tabular web interface, via a dynamic visualization on the human karyotype, as a downloadable tab-delimited file and as an OWL knowledge base. This article presents a number of recent improvements to the Catalog, including novel ways for users to interact with the Catalog and changes to the curation infrastructure.

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