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December 6, 2013Nucleic Acids Research2,949 citationsOpen Access

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

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DWDanielle WelterJMJacqueline A. L. MacArthurJMJoannella Morales

Key Points

  • To provide a comprehensive, publicly accessible catalog of SNP-trait associations from GWAS studies.
  • Manually curated collection of published GWAS containing at least 100,000 SNPs.
  • Quarterly updates with visual representations mapping SNP-trait associations to chromosomal locations.
  • Accessible through web interface, dynamic visualization on the human karyotype, downloadable files, and OWL knowledge base.
  • Catalog features 1,751 curated publications covering 11,912 SNPs with associations at P <1 × 10(-5).
  • Recent improvements enhance user interaction and the curation infrastructure.

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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Cite This Study

Welter et al. (2013) studied this question.

synapsesocial.com/papers/69db9831387cf706986885b6https://doi.org/10.1093/nar/gkt1229
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