The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
D Welter, J MacArthur, J Morales, T Burdett… - Nucleic acids …, 2014 - academic.oup.com
D Welter, J MacArthur, J Morales, T Burdett, P Hall, H Junkins, A Klemm, P Flicek, T Manolio…
Nucleic acids research, 2014•academic.oup.comAbstract 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 …
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 …
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.
Oxford University Press