The NHGRI GWAS Catalog, a curated resource of SNP-trait associations - PubMed (original) (raw)

. 2014 Jan;42(Database issue):D1001-6.

doi: 10.1093/nar/gkt1229. Epub 2013 Dec 6.

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

Danielle Welter et al. Nucleic Acids Res. 2014 Jan.

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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Figures

Figure 1.

Figure 1.

Studies, traits and SNP-trait associations from 2005–2013 reveal the growth in eligible studies.

Figure 2.

Figure 2.

The interactive GWAS diagram is a visualization of all SNP-trait associations with P <5 × 10−8, mapped to the SNP's cytogenetic band. Visualizations of SNPs with metabolic or immune system disease are highlighted. Hovering over a SNP displays the trait name; clicking on it returns the individual SNP-trait associations, including _P_-value and publication, as well as links to the relevant entry in the GWAS Catalog, Europe PMC and Ensembl.

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