Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis

Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis

BackgroundApproximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relevant variants increased over time.MethodsIn this study, we conducted a gene-centric reanalysis of exome data of 200 HCM cases 5 years after the in...

Full description

Bibliographic Details
Main Authors: Hager Jaouadi, Victor Morel, Helene Martel, Pierre Lindenbaum, Lorcan Lamy de la Chapelle, Marine Herbane, Claire Lucas, Frédérique Magdinier, Habib Gilbert, Jean-Jacques Schott, Stéphane Zaffran, Karine Nguyen
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-10-01
Series:Frontiers in Medicine
Subjects:
HCM
exome reanalysis
sarcomeric genes
non-sarcomeric genes
novel-associated genes
FHOD3
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2024.1480947/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2024.1480947/full

Similar Items