The Centre for Applied Genomics, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, Ontario M5G 0A4, Canada, Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala SE-751 08, Sweden and Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92. doi: 10.1093/nar/gkt958. Epub 2013 Oct 29.
Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/) has provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) found in the genomes of control individuals from worldwide populations. Here, we describe updates and new features, which have expanded the utility of DGV for both the basic research and clinical diagnostic communities. The current version of DGV consists of 55 published studies, comprising >2.5 million entries identified in >22,300 genomes. Studies included in DGV are selected from the accessioned data sets in the archival SV databases dbVar (NCBI) and DGVa (EBI), and then further curated for accuracy and validity. The core visualization tool (gbrowse) has been upgraded with additional functions to facilitate data analysis and comparison, and a new query tool has been developed to provide flexible and interactive access to the data. The content from DGV is regularly incorporated into other large-scale genome reference databases and represents a standard data resource for new product and database development, in particular for copy number variation testing in clinical labs. The accurate cataloguing of variants in DGV will continue to enable medical genetics and genome sequencing research.
在过去的十年中，基因组变异数据库（DGV；http://dgv.tcag.ca/）提供了一个公共可访问的、经过精心整理的结构变异（SV）目录，这些变异是在来自世界各地的对照个体的基因组中发现的。在这里，我们描述了更新和新功能，这些更新和新功能扩展了 DGV 在基础研究和临床诊断社区的用途。当前版本的 DGV 由 55 个已发布的研究组成，包含在超过 22300 个基因组中识别出的超过 250 万个条目。DGV 中包含的研究是从档案 SV 数据库 dbVar（NCBI）和 DGVa（EBI）中已归档的数据集选择的，然后对其进行进一步的准确性和有效性整理。核心可视化工具（gbrowse）已升级，增加了其他功能，以方便数据分析和比较，并开发了一个新的查询工具，以提供灵活和交互式的数据访问。DGV 的内容定期纳入其他大规模基因组参考数据库，并代表了新产品和数据库开发的标准数据资源，特别是在临床实验室进行拷贝数变异测试。DGV 中对变异的准确编目将继续为医学遗传学和基因组测序研究提供支持。
Zotero 插件