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使用ACMG/AMP框架来捕获与预测和观察到对拼接的影响相关的证据:ClinGen SVI拼接子组的建议

Logan C Walker¹, Miguel de la Hoya², George A R Wiggins¹

¹Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.

American journal of human genetics

|June 23, 2023

概括

这项研究改进了基于拼接证据对遗传变异的分类准则,提高了变异解释的一致性. 新的建议标准化了美国医学遗传学和基因组学学院 (ACMG) /分子病理学协会 (AMP) 代码的用于拼接数据的使用.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
生物信息学是一种生物信息学.

背景情况:

美国医学遗传学和基因组学学院 (ACMG) /分子病理学协会 (AMP) 框架缺乏应用拼接证据代码的具体指导.
这种模两可导致不同的专家小组对变种进行不一致的分类.
为了解决这些局限性,成立了ClinGen序列变异解释拼接子组.

研究的目的:

改进应用ACMG/AMP与拼接数据和计算预测相关的代码的建议.
在变异性致病性分类中对基于拼接的证据的解释进行标准化.
为将拼接数据整合到变种评估中提供一个框架.

主要方法:

利用经验上获得的拼接证据.
确定与拼接相关数据的证据权重和适当的标准代码选择.
概述了基因特定PVS1决策树的过程,其中包含了拼接数据.
为校准拼接预测工具的实例化方法.

主要成果:

建议重新使用PVS1_Strength用于拼接测试数据显示功能丧失.
建议BP7用于RNA结果,表明对内部/同义变体没有拼接影响.
建议PS3/BS3用于测量超越RNA剪接的功能影响的测试.
基于预测的拼接效应与已知的致病变体相似的PS1应用的倡导.

结论:

拟议的建议旨在使用基于拼接的证据标准化变异性致病性分类.
对应用ACMG/AMP拼接代码的更明确的指导方针将提高基因变异解释的一致性.
这项工作为评估临床基因组学中的RNA测试证据提供了一个框架.

关键词:

在 ACMG/AMP 代码中.BP4 BP4 BP4 BP4 BP4 BP4 BP4 BP4 BP4 BP4 BP3 BP4 BP3 BP4 BP3 BP4 BP3 BP4 BP3 BP4 BP3 BP4 BP3 BP4 BP3 BP4 BP7 BP7 BP7 BP7 BP7 BP7 BP7 BP7 BP7 BP7 BP7 BP7 BP7 在ClinGen中,使用ClinGen.PP3 PP3 PP3 PP3 PP3 PP3 PP3 PP3 PP3 PP3 PP3 PP3 PP3 PP3 这就是PS1的PS1.在PVS1中使用PVS1.通过RNA拼接进行RNA拼接.变种分类的变种分类.

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