Basic science methods for the characterization of variants of uncertain significance in hypertrophic cardiomyopathy

Basic science methods for the characterization of variants of uncertain significance in hypertrophic cardiomyopathy

With the advent of next-generation whole genome sequencing, many variants of uncertain significance (VUS) have been identified in individuals suffering from inheritable hypertrophic cardiomyopathy (HCM). Unfortunately, this classification of a genetic variant results in ambiguity in interpretation,...

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Bibliographic Details
Main Authors: Chang Yoon Doh, Thomas Kampourakis, Kenneth S. Campbell, Julian E. Stelzer
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
hypertrophic cardiomyopathy (HCM)
dilated cardiomyopathy (DCM)
variants of uncertain clinical significance (VUS)
restrictive cardiomyopathy (RCM)
high throughput screen (HTS)
mathematical modeling & simulation
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2023.1238515/full

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https://www.frontiersin.org/articles/10.3389/fcvm.2023.1238515/full

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