Wagner Alex H, Babb Lawrence, Alterovitz Gil, Baudis Michael, Brush Matthew, Cameron Daniel L, Cline Melissa, Griffith Malachi, Griffith Obi L, Hunt Sarah E, Kreda David, Lee Jennifer M, Li Stephanie, Lopez Javier, Moyer Eric, Nelson Tristan, Patel Ronak Y, Riehle Kevin, Robinson Peter N, Rynearson Shawn, Schuilenburg Helen, Tsukanov Kirill, Walsh Brian, Konopko Melissa, Rehm Heidi L, Yates Andrew D, Freimuth Robert R, Hart Reece K
Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.
The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.
Cell Genom. 2021 Nov 10;1(2). doi: 10.1016/j.xgen.2021.100027.
Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced "verse"), an extensible framework for the computable representation of variation that complements contemporary human-readable and flat file standards for genomic variation representation. VRS provides semantically precise representations of variation and leverages this design to enable federated identification of biomolecular variation with globally consistent and unique computed identifiers. The VRS framework includes a terminology and information model, machine-readable schema, data sharing conventions, and a reference implementation, each of which is intended to be broadly useful and freely available for community use. VRS was developed by a partnership among national information resource providers, public initiatives, and diagnostic testing laboratories under the auspices of the Global Alliance for Genomics and Health (GA4GH).
要实现基因组信息的个人、公共、研究和临床价值最大化，就需要可靠地交换基因变异数据。我们在此报告变异表示规范（VRS，发音为“verse”），这是一个用于变异的可计算表示的可扩展框架，它补充了当代用于基因组变异表示的人类可读和平板文件标准。VRS提供了变异的语义精确表示，并利用这种设计通过全球一致且唯一的计算标识符实现生物分子变异的联合识别。VRS框架包括一个术语和信息模型、机器可读模式、数据共享约定以及一个参考实现，每一项都旨在具有广泛的实用性且可供社区免费使用。VRS是由国家信息资源提供者、公共倡议组织和诊断检测实验室在全球基因组与健康联盟（GA4GH）的支持下合作开发的。
