Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls


Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G. , ...Daha Fazla

GENETICS IN MEDICINE, 2020 (SCI İndekslerine Giren Dergi) identifier identifier

Özet

Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate.