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2024年HGVS编目:改善社区参与,可用性和可计算性
Reece K Hart1, Ivo F A C Fokkema2, Marina DiStefano3
1MyOme, Inc., San Francisco, USA. reecehart@gmail.com.
Genome medicine
|December 20, 2024
概括
人类基因组变异学会 (HGVS) 命名法,是基因组变异描述的全球标准,已经更新,改进了治理和用于精确变异通信的新计算语法. 这些改进确保了临床和研究基因组学的更好的可访问性和实用性.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 分子生物学分子生物学
背景情况:
- 人类基因组变异学会 (HGVS) 命名法是描述DNA,RNA和蛋白质序列中的遗传变异的全球标准.
- 这一标准对于在临床和研究基因组学中保持一致的沟通至关重要.
研究的目的:
- 详细介绍HGVS编号的最新更新,重点关注治理,社区参与,网站功能和实施方面的改进.
- 提高基因组变异描述的精度,一致性和可访问性.
主要方法:
- 为了更广泛的合作,HGVS变种命名委员会 (HVNC) 现在在人类基因组组织 (HUGO) 下运作.
- 一个正式的计算语法 (扩展的Backus-Naur形式 - EBNF) 引入了语法定义.
- 实施了网站重新设计和更新的转录选择和基因融合表示指南.
主要成果:
- HGVS Nomenclature v. 21.1 具有重新设计的,移动响应的网站,改进了导航和搜索.
- 已经建立了一个新的版本策略和正式的社区反机制.
- 更新的指南包括对MANE Select转录和基因融合表示的建议.
结论:
- 进步为HGVS命名体系的发展提供了可持续的基础,提高了可访问性和实用性.
- 正式的计算语法能够提供明确的,机器可读的变体描述.
- 改善社区参与和指导支持基因组学的不断变化的需求.
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