title: 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.
authors: European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK, Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA and Division of Policy, Communication and Education, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors: Danielle
authors: D
authors: Welter
authors: Jacqueline
authors: J
authors: MacArthur
authors: Joannella
authors: J
authors: Morales
authors: Tony
authors: T
authors: Burdett
authors: Peggy
authors: P
authors: Hall
authors: Heather
authors: H
authors: Junkins
authors: Alan
authors: A
authors: Klemm
authors: Paul
authors: P
authors: Flicek
authors: Teri
authors: T
authors: Manolio
authors: Lucia
authors: L
authors: Hindorff
authors: Helen
authors: H
authors: Parkinson
mesh_terms: D030561:Databases, Nucleic Acid; D063990:Gene Ontology; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D020407:Internet; D059785:Karyotype; D020641:Polymorphism, Single Nucleotide