Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

ABSTRACT: Dilated cardiomyopathy (DCM) is a complex disease affecting young adults. It is a pathological condition impairing myocardium activity that leads to heart failure and, in the most severe cases, transplantation, which is currently the only possible therapy for the disease. DCM can be attributed to many genetic determinants interacting with environmental factors, resulting in a highly variable phenotype. Due to this complexity, the early identification of causative gene mutations is an important goal to provide a genetic diagnosis, implement pre-symptomatic interventions, and predict prognosis. The advent of next-generation sequencing (NGS) has opened a new path for mutation screening, and exome sequencing provides a promising approach for identifying causal variants in known genes and novel

SUBMITTER: D'Agostino Y 

PROVIDER: S-EPMC9600457 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature