ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 31 citations in OpenAlex.
- Contribution of Noncanonical Splice Variants toCirculation. Genomic and precision medicine · 2021Trial
- Incidence, Genetic Characteristics, and Outcomes of Paediatric Cardiomyopathy in a National Cohort (2003-2025).Pediatric cardiology · 2026Article
- Recurrent Spontaneous Coronary Artery Dissection as the Cause of Repeated Myocardial Infarctions.Clinical case reports · 2025Article
- Cardiomyopathies: The Role of Non-Coding RNAs.Non-coding RNA · 2024Review
- Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.ESC heart failure · 2024Article
- Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.Circulation. Genomic and precision medicine · 2024Review
- Role of non-coding variants in cardiovascular disease.Journal of cellular and molecular medicine · 2023Review
- Gene editing innovations and their applications in cardiomyopathy research.Disease models & mechanisms · 2023Review
- Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.Journal of the American Heart Association · 2022Article
- Clinical Implication of Genetic Testing in Dilated Cardiomyopathy.International journal of heart failure · 2022Review
- Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.Journal of translational medicine · 2021Article
- Mechanisms ofJournal of cardiovascular development and disease · 2021Review
- Considering complexity in the genetic evaluation of dilated cardiomyopathy.Heart (British Cardiac Society) · 2021Review
- Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy.Current cardiology reports · 2020Review
- Pediatric Primary Dilated Cardiomyopathy Gene Testing and Variant Reclassification: Does It Matter?Journal of the American Heart Association · 2020Article
- Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.Journal of the American Heart Association · 2020Article
- Response to Brodehl et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
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Authors and funding
22 authors at 7 institutions in 4 countries.
Funding
Abstract
purposeWe evaluated strategies for identifying disease-causing variants in genetic testing for dilated cardiomyopathy (DCM).
methodsCardiomyopathy gene panel testing was performed in 532 DCM patients and 527 healthy control subjects. Rare variants in 41 genes were stratified using variant-level and gene-level characteristics.
resultsA majority of DCM cases and controls carried rare protein-altering cardiomyopathy gene variants. Variant-level characteristics alone had limited discriminative value. Differentiation between groups was substantially improved by addition of gene-level information that incorporated ranking of genes based on literature evidence for disease association. The odds of DCM were increased to nearly 9-fold for truncating variants or high-impact missense variants in the subset of 14 genes that had the strongest biological links to DCM (P <0.0001). For some of these genes, DCM-associated variants appeared to be clustered in key protein functional domains. Multiple rare variants were present in many family probands, however, there was generally only one "driver" pathogenic variant that cosegregated with disease.
conclusionRare variants in cardiomyopathy genes can be effectively stratified by combining variant-level and gene-level information. Prioritization of genes based on their a priori likelihood of disease causation is a key factor in identifying clinically actionable variants in cardiac genetic testing.
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