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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Detalles Bibliográficos
Autores principales: Kurzlechner, Leonie M., Jones, Edward G., Berkman, Amy M., Tadros, Hanna J., Rosenfeld, Jill A., Yang, Yaping, Tunuguntla, Hari, Allen, Hugh D., Kim, Jeffrey J., Landstrom, Andrew P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9145017/
https://www.ncbi.nlm.nih.gov/pubmed/35629155
http://dx.doi.org/10.3390/jpm12050733

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