Beck Tim, Hastings Robert K, Gollapudi Sirisha, Free Robert C, Brookes Anthony J
Department of Genetics, University of Leicester, Leicester, UK.
Eur J Hum Genet. 2014 Jul;22(7):949-52. doi: 10.1038/ejhg.2013.274. Epub 2013 Dec 4.
To facilitate broad and convenient integrative visualization of and access to GWAS data, we have created the GWAS Central resource (http://www.gwascentral.org). This database seeks to provide a comprehensive collection of summary-level genetic association data, structured both for maximal utility and for safe open access (i.e., non-directional signals to fully preclude research subject identification). The resource emphasizes on advanced tools that allow comparison and discovery of relevant data sets from the perspective of genes, genome regions, phenotypes or traits. Tested markers and relevant genomic features can be visually interrogated across up to 16 multiple association data sets in a single view, starting at a chromosome-wide view and increasing in resolution down to individual bases. In addition, users can privately upload and view their own data as temporary files. Search and display utility is further enhanced by exploiting phenotype ontology annotations to allow genetic variants associated with phenotypes and traits of interest to be precisely identified, across all studies. Data submissions are accepted from individual researchers, groups and consortia, whereas we also actively gather data sets from various public sources. As a result, the resource now provides over 67 million P-values for over 1600 studies, making it the world's largest openly accessible online collection of summary-level GWAS association information.
为便于广泛且便捷地对全基因组关联研究(GWAS)数据进行综合可视化分析与访问,我们创建了GWAS Central资源库(http://www.gwascentral.org)。该数据库旨在全面收集汇总级别的基因关联数据,其结构设计既考虑了最大程度的实用性,也兼顾了安全的开放访问(即非定向信号,以完全防止研究对象被识别)。该资源库着重于先进工具,这些工具能从基因、基因组区域、表型或性状的角度对相关数据集进行比较和发现。经过检验的标记和相关基因组特征可以在单个视图中跨多达16个多个关联数据集进行可视化查询,从全染色体范围的视图开始,分辨率逐步提高至单个碱基。此外,用户可以私下上传并将自己的数据作为临时文件查看。通过利用表型本体注释,搜索和显示功能得到进一步增强,从而能够在所有研究中精确识别与感兴趣的表型和性状相关的基因变异。我们接受来自个体研究人员、团队和联盟的数据提交,同时也积极从各种公共来源收集数据集。因此,该资源库目前为超过1600项研究提供了超过6700万个P值,成为世界上最大的可公开访问的在线汇总级GWAS关联信息集合。