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Article

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

Scientific reports - 30 Dec 2025

Jeong Ha-Eun, Kim Kyung-Hyun, Kim Youngjun, Yu Ho-Yeong, Shin Dong Mun, Kim Oc-Hee, Kim Bong-Jo, Park Mi-Hyun, Kim Jihyun

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41469780
DOI: 10.1038/s41598-025-33901-y
PMCID: PMC12852727

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HP

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