ArticleScientific reports2025
Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
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 pathogenic or likely pathogenic variants in 41 patients. Among the remaining 3534 variants of uncertain significance (VUS), burden analysis revealed 144 gene signatures significantly enriched in pathways related to cardiac muscle tissue development, heart morphogenesis, and endocrine system development (FDR < 0.003). These gene signatures were strongly correlated with cardiomyopathy - associated phenotypes, including HCM (HP:0001639) and DCM (HP:0001644) from the Human Phenotype Ontology (HPO) database. Single-cell transcriptomic analysis of 11,664 heart tissue cells demonstrated that the expression of these gene is influenced by cellular heterogeneity, which may contribute to disease manifestation. Further analysis identified five major cell types in heart tissue, revealing dynamic interactions between cardiomyocytes and endothelial cells. Rare genetic variants, including VUS, are closely linked to cardiac developmental processes and the sarcolemma integrity in cardiomyopathy. Our findings underscore the critical involvement of both cardiomyocytes and non-cardiomyocytes in disease etiology, highlighting the utility of integrating genomic and single-cell data for mechanistic insights.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.