The NHGRI GWAS Catalog, a Curated Resource of SNP-trait Associations

Nucleic Acids Res. 2014 Jan;42(Database issue):D1001-6. doi: 10.1093/nar/gkt1229. Epub 2013 Dec 6.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Databases, Nucleic Acid*
  • Gene Ontology
  • Genome, Human
  • Genome-Wide Association Study*
  • Humans
  • Internet
  • Karyotype
  • Polymorphism, Single Nucleotide*