一名患有多种心肌病变体的14岁心力衰竭患者说明了信号噪声分析在基因检测重新解读中的作用。
A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation.
作者信息
Connell Patrick S, Jeewa Aamir, Kearney Debra L, Tunuguntla Hari, Denfield Susan W, Allen Hugh D, Landstrom Andrew P
机构信息
Department of Pediatrics, Section of Pediatric Cardiology Baylor College of Medicine Houston Texas.
Department of Pediatrics, Division of Pediatric Cardiology The Hospital for Sick Children Toronto Ontario Canada.
出版信息
Clin Case Rep. 2018 Dec 14;7(1):211-217. doi: 10.1002/ccr3.1920. eCollection 2019 Jan.
Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the gene are pathologic, consistency of prediction software on pathogenicity, and the current clinical consensus.
心肌病相关意义未明的变异应基于该变异在人群中的发生率与疾病发生率的比较、该基因中其他变异为病理性的证据、预测软件对致病性的一致性判断以及当前临床共识进行系统分析。
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