The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.
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DOI：
10.1093/nar/gkt1229
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发表时间：
2014-01
影响因子：
14.9
通讯作者：
Parkinson H
中科院分区：
文献类型：
--
作者：
Welter D;MacArthur J;Morales J;Burdett T;Hall P;Junkins H;Klemm A;Flicek P;Manolio T;Hindorff L;Parkinson H
美国国家人类基因组研究所已出版的全基因组联合研究目录提供了一个公开可用的手工精选的已发表的全基因组联合研究目录集合，分析了至少10万个单核苷酸多态(SNPs)以及与P<；1×10−5相关的所有单核苷酸多态(SNP)。除了SNP-性状关联数据外，该目录还发布了映射到SNP染色体位置的所有SNP-性状关联的季度图表。该目录可通过表格网络界面、人类染色体组型的动态可视化、可下载的制表符分隔文件和OWL知识库进行访问。本文介绍了对Catalog的一些最新改进，包括用户与Catalog交互的新方法以及对管理基础设施的更改。
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.