4.8 Article

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

Journal

NUCLEIC ACIDS RESEARCH
Volume 42, Issue D1, Pages D1001-D1006

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/nar/gkt1229

Keywords

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Funding

  1. National Institutes of Health [3U41-HG006104]
  2. EMBL
  3. Health Thematic Area of the Cooperation Programme of the European Commission
  4. NIH
  5. [200754]
  6. NATIONAL HUMAN GENOME RESEARCH INSTITUTE [U41HG006104, U41HG007823] Funding Source: NIH RePORTER

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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 x 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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