Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy

Background: Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy and can predispose individuals to sudden death. Most pediatric HCM patients host a known pathogenic variant in a sarcomeric gene. With the increase in exome sequencing (ES) in clinical settings, incidental vari...

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Bibliographic Details
Main Authors: Leonie M. Kurzlechner, Edward G. Jones, Amy M. Berkman, Hanna J. Tadros, Jill A. Rosenfeld, Yaping Yang, Hari Tunuguntla, Hugh D. Allen, Jeffrey J. Kim, Andrew P. Landstrom
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Journal of Personalized Medicine
Subjects:
hypertrophic cardiomyopathy
exome sequencing
incidentally identified variant
secondary finding
genetic testing
mutation hotspot
Online Access:https://www.mdpi.com/2075-4426/12/5/733

Internet

https://www.mdpi.com/2075-4426/12/5/733

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