Thorisson Gudmundur A, Lancaster Owen, Free Robert C, Hastings Robert K, Sarmah Pallavi, Dash Debasis, Brahmachari Samir K, Brookes Anthony J
Department of Genetics, University of Leicester, University Road, Leicester, LE1 7RH, UK.
Nucleic Acids Res. 2009 Jan;37(Database issue):D797-802. doi: 10.1093/nar/gkn748. Epub 2008 Oct 23.
The Human Genome Variation database of Genotype to Phenotype information (HGVbaseG2P) is a new central database for summary-level findings produced by human genetic association studies, both large and small. Such a database is needed so that researchers have an easy way to access all the available association study data relevant to their genes, genome regions or diseases of interest. Such a depository will allow true positive signals to be more readily distinguished from false positives (type I error) that fail to consistently replicate. In this paper we describe how HGVbaseG2P has been constructed, and how its data are gathered and organized. We present a range of user-friendly but powerful website tools for searching, browsing and visualizing G2P study findings. HGVbaseG2P is available at http://www.hgvbaseg2p.org.
人类基因型到表型信息的基因组变异数据库（HGVbaseG2P）是一个新的核心数据库，用于存储大小规模人类遗传关联研究产生的汇总级研究结果。需要这样一个数据库，以便研究人员能够轻松访问与他们感兴趣的基因、基因组区域或疾病相关的所有可用关联研究数据。这样一个存储库将使真正的阳性信号更容易与未能持续复现的假阳性（I型错误）区分开来。在本文中，我们描述了HGVbaseG2P的构建方式，以及其数据的收集和组织方式。我们展示了一系列用户友好但功能强大的网站工具，用于搜索、浏览和可视化基因到表型（G2P）研究结果。可通过http://www.hgvbaseg2p.org访问HGVbaseG2P。
