Scientific reportsHumansMaleFemaleSingle-Cell AnalysisTranscriptome
Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.
Ha-Eun Jeong, Kyung-Hyun Kim, Youngjun Kim, Ho-Yeong Yu, Dong Mun Shin, Oc-Hee Kim, Bong-Jo Kim, Mi-Hyun Park, Jihyun Kim
Published: 202510.1038/s41598-025-33901-y
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 ce…
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