ArticleCirculation. Cardiovascular genetics2014
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
Article in Circulation. Cardiovascular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed.
- Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.NPJ genomic medicine · 2026Article
- Implementing Precision Medicine for Dilated Cardiomyopathy: Insights From the DCM Consortium.Circulation. Genomic and precision medicine · 2025Article
- Searching for a Solution: A Case Report on Multifocal Ectopic Purkinje-Related Premature Contractions Syndrome.Medicina (Kaunas, Lithuania) · 2025Article
- A lifesaving revolution delayed.Nature genetics · 2024Article
- Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.Journal of the American Heart Association · 2024Article
- Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.Scientific reports · 2024Review
- TheBiomedicines · 2024Article
- Identification of a Missense Mutation in theJournal of multidisciplinary healthcare · 2024Article
- Interaction of Filamin C With Actin Is Essential for Cardiac Development and Function.Circulation research · 2023Article
- Gene editing innovations and their applications in cardiomyopathy research.Disease models & mechanisms · 2023Review
- Identification ofInternational journal of molecular sciences · 2021Article
- Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report.The American journal of case reports · 2021Article
- Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.American journal of medical genetics. Part A · 2021Article
- Oxidative stress biomarkers in Fabry disease: is there a room for them?Journal of neurology · 2020Article
- Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy.Current cardiology reports · 2020Review
- Clinical and Genetic Findings in Children Presenting With Ventricular Fibrillation as the First Manifestation of Cardiovascular Disease.Journal of the American Heart Association · 2020Article
- Structure and Function of Filamin C in the Muscle Z-Disc.International journal of molecular sciences · 2020Review
- SCN5A variant R222Q generated abnormal changes in cardiac sodium current and action potentials in murine myocytes and Purkinje cells.Heart rhythm · 2019Article
- From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies.Current heart failure reports · 2019Review
- Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
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Authors and funding
8 authors.
Funding
Abstract
backgroundCardiomyopathy is highly heritable but genetically diverse. At present, genetic testing for cardiomyopathy uses targeted sequencing to simultaneously assess the coding regions of >50 genes. New genes are routinely added to panels to improve the diagnostic yield. With the anticipated $1000 genome, it is expected that genetic testing will shift toward comprehensive genome sequencing accompanied by targeted gene analysis. Therefore, we assessed the reliability of whole genome sequencing and targeted analysis to identify cardiomyopathy variants in 11 subjects with cardiomyopathy. METHODS AND
resultsWhole genome sequencing with an average of 37× coverage was combined with targeted analysis focused on 204 genes linked to cardiomyopathy. Genetic variants were scored using multiple prediction algorithms combined with frequency data from public databases. This pipeline yielded 1 to 14 potentially pathogenic variants per individual. Variants were further analyzed using clinical criteria and segregation analysis, where available. Three of 3 previously identified primary mutations were detected by this analysis. In 6 subjects for whom the primary mutation was previously unknown, we identified mutations that segregated with disease, had clinical correlates, and had additional pathological correlation to provide evidence for causality. For 2 subjects with previously known primary mutations, we identified additional variants that may act as modifiers of disease severity. In total, we identified the likely pathological mutation in 9 of 11 (82%) subjects.
conclusionsThese pilot data demonstrate that ≈30 to 40× coverage whole genome sequencing combined with targeted analysis is feasible and sensitive to identify rare variants in cardiomyopathy-associated genes.
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