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.

Keywords

Genome-wide association studyBiologySNPSingle-nucleotide polymorphismTraitGenetic associationComputational biologyGeneticsWorld Wide WebComputer scienceGeneGenotype

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Publication Info

Year
2013
Type
article
Volume
42
Issue
D1
Pages
D1001-D1006
Citations
2876
Access
Closed

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Danielle Welter, Jacqueline MacArthur, Joannella Morales et al. (2013). The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research , 42 (D1) , D1001-D1006. https://doi.org/10.1093/nar/gkt1229

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DOI
10.1093/nar/gkt1229