The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Nucleic Acids ResearchPublished 6 December 2013Open access
Danielle Welter, Jacqueline A. L. MacArthur, Joannella Morales, Tony Burdett, Peggy Hall, Heather Junkins
Citations2,920
SJR quartileQ1
SJR score7.78
SNIP4.71
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TL;DR
A number of recent improvements to theNHGRI Catalog of Published Genome-Wide Association Studies are presented, including novel ways for users to interact with the Catalog and changes to 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.
Keywords
Biochemistry, Genetics and Molecular Biology
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