Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes

The diffusion of next-generation sequencing (NGS)-based approaches allows for the identification of pathogenic mutations of cardiomyopathies and channelopathies in more than 200 different genes. Since genes considered uncommon for a clinical phenotype are also now included in molecular testing, the...

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Bibliographic Details
Main Authors: Cristina Mazzaccara, Raffaella Lombardi, Bruno Mirra, Ferdinando Barretta, Maria Valeria Esposito, Fabiana Uomo, Martina Caiazza, Emanuele Monda, Maria Angela Losi, Giuseppe Limongelli, Valeria D’Argenio, Giulia Frisso
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Biomolecules
Subjects:
cardiomyopathies
channelopathies
next-generation sequencing
genetic testing
uncommon genes
diagnostic sensitivity
Online Access:https://www.mdpi.com/2218-273X/12/10/1417

Internet

https://www.mdpi.com/2218-273X/12/10/1417

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