HGVS Recommendations for the Description of Sequence Variants: 2016 Update
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
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DOI：
10.1002/humu.22981
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发表时间：
2016-06-01
期刊：
影响因子：
3.9
通讯作者：
Taschner, Peter E. M.
中科院分区：
文献类型：
--
作者：
den Dunnen, Johan T.;Dalgleish, Raymond;Taschner, Peter E. M.
序列变异的一致和明确的描述对于报告和交换关于基因组分析的信息是必不可少的。特别是，DNA诊断关键依赖于对检测到的变异的准确和标准化的描述和共享。由人类基因组变异学会于2000年提出的序列变异命名系统已被广泛采用，并已发展成为国际公认的标准。这些建议目前是由一个由三个国际组织主持的序列变异描述工作组(SVD-WG)委托进行的：人类基因组变异学会(HGVS)、人类变异组计划(HVP)和人类基因组组织(HUGO)。修改和延期请求按照包括社区协商步骤在内的标准程序通过SVD工作组。版本号被分配给命名系统，以允许用户指定在其变体描述中使用的版本。在这里，我们介绍当前的建议，HGVS版本15.11，并简要总结自2000年出版以来所做的更改。最大的关注点是消除不一致之处，并收紧允许自动数据处理的定义。这些建议的广泛版本可在网上获得，网址为。
The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature system proposed in 2000 by the Human Genome Variation Society has been widely adopted and has developed into an internationally accepted standard. The recommendations are currently commissioned through a Sequence Variant Description Working Group (SVD-WG) operating under the auspices of three international organizations: the Human Genome Variation Society (HGVS), the Human Variome Project (HVP), and the Human Genome Organization (HUGO). Requests for modifications and extensions go through the SVD-WG following a standard procedure including a community consultation step. Version numbers are assigned to the nomenclature system to allow users to specify the version used in their variant descriptions. Here, we present the current recommendations, HGVS version 15.11, and briefly summarize the changes that were made since the 2000 publication. Most focus has been on removing inconsistencies and tightening definitions allowing automatic data processing. An extensive version of the recommendations is available online, at .