在2030年,具有不确定的意义的变体还会存在吗?
Douglas M Fowler1, Heidi L Rehm2
1Department of Genome Sciences, University of Washington, Seattle, WA, USA; Department of Bioengineering, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
American journal of human genetics
|December 12, 2023
概括
国家人类基因组研究所预测,到2030年,不确定的基因组变异 (VUS) 将会过时. 变种分类,计算工具和数据共享方面的进步正在为精准医学的这一关键发展铺平道路.
科学领域:
- 基因组学就是基因组学.
- 临床遗传学 临床遗传学
- 生物信息学是一种生物信息学.
背景情况:
- 在精确基因组医学中,诊断名称"不确定意义的变异" (VUS) 仍然是一个重大挑战.
- 国家人类基因组研究所 (NHGRI) 在2020年发布了一项大胆的预测,即基因组变异的临床相关性将变得易于预测,使VUS变得过时.
研究的目的:
- 评估NHGRI关于VUS.老化的预测的可行性.
- 概述到2030年在编码地区解决VUS的关键进展.
主要方法:
- 审查最近变种分类标准的进展.
- 对计算变量效应预测器性能改进的评估.
- 对变异效应的可扩展多重测试的评估 (例如,深度突变扫描).
- 分析数据共享倡议对变体解释的影响.
主要成果:
- 预计到2030年,编码区域中的许多,如果不是大多数,VUS将被解决.
- 技术和协作努力的融合正在推动VUS解决的进展.
- 投资于VUS消除对于精确基因组医学的进步至关重要.
结论:
- 到2030年消除VUS取决于当前和近期的战略决策和投资.
- 解决VUS对于实现精确基因组医学的全部潜力至关重要.
- 预计基因组变异解释的持续进展将与NHGRI大胆预测保持一致.
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