Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.
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DOI：
10.1002/humu.24088
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发表时间：
2020-10
期刊：
影响因子：
3.9
通讯作者：
Biesecker LG
中科院分区：
文献类型：
--
作者：
Tavtigian SV;Harrison SM;Boucher KM;Biesecker LG
最近，我们证明了美国医学遗传学和基因组学学院/医学病理学协会（ACMG/AMP）用于评估孟德尔疾病基因变异的定性指南与定量贝叶斯公式基本兼容。在这里，我们表明，基本的ACMG/AMP“证据类别的强度”可以抽象成一个点系统。这些点与Log（几率）成比例，是可加性的，并产生一个系统，概括了ACMG/AMP指南的贝叶斯公式。这个系统的优点是它的简单性和点值之间的连接和致病性的几率允许经验校准的证据强度为个别数据类型。缺点包括先验概率的范围很窄，系统的贝叶斯性质不明显。我们的结论是，一个基于点的系统具有用户友好的实际属性，可以是有用的，只要基本的贝叶斯原理得到承认。
Recently, we demonstrated that the qualitative American College of Medical Genetics and Genomics/ Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of Mendelian disease gene variants are fundamentally compatible with a quantitative Bayesian formulation. Here, we show that the underlying ACMG/AMP “strength of evidence categories” can be abstracted into a point system. These points are proportional to Log(odds), are additive, and produce a system that recapitulates the Bayesian formulation of the ACMG/AMP guidelines. Strengths of this system are its simplicity and that the connection between point values and odds of pathogenicity allows empirical calibration of strength of evidence for individual data types. Weaknesses include that a narrow range of prior probabilities is locked in, and that the Bayesian nature of the system is inapparent. We conclude that a points-based system has the practical attribute of user friendliness and can be useful so long as the underlying Bayesian principles are acknowledged.
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影响因子：
9.8
作者：
Easton, Douglas F.;Deffenbaugh, Amie M.;Goldgar, David E.
通讯作者：
Goldgar, David E.
影响因子：
9.8
作者：
Goldgar, DE;Easton, DF;Couch, FJ
通讯作者：
Couch, FJ
影响因子：
4
作者：
Abkevich, V;Zharkikh, A;Tavtigian, SV
通讯作者：
Tavtigian, SV
影响因子：
8.8
作者：
Riggs, Erin Rooney;Andersen, Erica F.;Martin, Christa Lese
通讯作者：
Martin, Christa Lese
DOI：
10.1038/gim.2017.210
发表时间：
2018-09
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Tavtigian SV;Greenblatt MS;Harrison SM;Nussbaum RL;Prabhu SA;Boucher KM;Biesecker LG;ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)
通讯作者：
ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)