The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
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ID: 290177
2013
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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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| Reference Key |
openalex_W2116868464
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|---|---|
| Authors | Danielle Welter, Jacqueline MacArthur, Joannella Morales, Tony Burdett, Peggy Hall, Heather Junkins, Alan Klemm, Paul Flicek, Teri A. Manolio, Lucia A. Hindorff, Helen Parkinson |
| Journal | Nucleic Acids Research |
| Year | 2013 |
| DOI |
10.1093/nar/gkt1229
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| URL | |
| Keywords | Keywords not found |
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