The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.
Welter, Danielle 1; MacArthur, Jacqueline 1; Morales, Joannella 1; Burdett, Tony 1; Hall, Peggy 2; Junkins, Heather 2; Klemm, Alan 3; Flicek, Paul 1; Manolio, Teri 2; Hindorff, Lucia 2,*; Parkinson, Helen 1,*
[Miscellaneous Article]
Nucleic Acids Research.
42(D1):D1001-D1006, January 1, 2014.
(Format: HTML, PDF)
: 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.
(C) Copyright Oxford University Press 2014.