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.
Nucleic Acids Res. 2014 Jan;42(Database issue):D1001-6. doi: 10.1093/nar/gkt1229. Epub 2013 Dec 6.
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.
美国国家人类基因组研究所（NHGRI）发布的全基因组关联研究（GWAS）目录提供了一个公开的手动整理的已发布 GWAS 数据集，其中包含至少 10 万个单核苷酸多态性（SNP）和所有 P<1×10(-5) 的 SNP-性状关联。该目录包括 1751 篇经过精心整理的出版物，其中涉及 11912 个 SNP。除了 SNP-性状关联数据外，目录还发布了一个季度图表，其中显示了所有映射到 SNP 染色体位置的 SNP-性状关联。该目录可通过表格网页界面、人类染色体图谱的动态可视化、可下载的制表符分隔文件和 OWL 知识库进行访问。本文介绍了目录的一些最新改进，包括用户与目录交互的新方法以及整理基础设施的更改。
