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


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.

SUBMITTER: Welter D 

PROVIDER: S-EPMC3965119 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

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

Welter Danielle D   MacArthur Jacqueline J   Morales Joannella J   Burdett Tony T   Hall Peggy P   Junkins Heather H   Klemm Alan A   Flicek Paul P   Manolio Teri T   Hindorff Lucia L   Parkinson Helen H  

Nucleic acids research 20131206 Database issue


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  ...[more]

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