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

TLDR

The NHGRI GWAS Catalog is a publicly available, manually curated collection of GWAS studies covering at least 100,000 SNPs and reporting all SNP‑trait associations with P < 1 × 10⁻⁵. This article describes recent enhancements to the Catalog, such as new user interaction features and updates to the curation infrastructure. The Catalog provides SNP‑trait association data, quarterly chromosomal diagrams, and is accessible through a web interface, dynamic karyotype visualization, downloadable tab‑delimited files, and an OWL knowledge base. It contains 1,751 curated publications and 11,912 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.