Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.

ABSTRACT: Whole-genome sequencing technologies have advanced, leading to an increase in uncharacterized variants with unknown functions. This study focuses on characterizing cardiomyopathy-associated genes harboring theses rare variants and uncovering their cellular contexts using single-cell transcriptomics. We investigated whole genome sequencing on 245 unrelated Korean patients with either dilated (48.2%) and hypertrophic (47.8%) cardiomyopathy. Rare variants were identified and subjected to burden analysis to detect potentially causative candidates. To understand their biological impact, we profiled single-cell transcriptomes from an independent dataset, highlighting cell populations and interactions relevant to disease pathogenesis. A total of 3584 rare variants were discovered, including 50 pa

SUBMITTER: Jeong HE 

PROVIDER: S-EPMC12852727 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature