ArticleMolecular genetics & genomic medicine2016
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2018Guideline
- Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies.Genome medicine · 2026Article
- The evaluation of copy number variants in an unselected population of patients with inherited cardiac conditions: the INTERACTION study.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- Advances in Cardiac Imaging and Genetic Testing for Diagnosis and Risk Stratification in Cardiomyopathies: 2024 Update.Journal of clinical medicine · 2024Review
- Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.BMC medical genomics · 2024Article
- Article
- Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.Scientific reports · 2024Review
- EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.European journal of human genetics : EJHG · 2023Review
- Article
- Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.BMC cardiovascular disorders · 2021Article
- Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.International journal of molecular sciences · 2021Review
- Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?Journal of the American Heart Association · 2020Review
- Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.Molecular genetics & genomic medicine · 2020Article
- Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus.Journal of clinical laboratory analysis · 2020Article
- Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies.The Clinical biochemist. Reviews · 2019Review
- Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Overlapping Phenotypes and Degree of Ventricular Dilatation Are Associated with Severity of Systolic Impairment and Late Gadolinium Enhancement in Non-Ischemic Cardiomyopathies.Medical science monitor : international medical journal of experimental and clinical research · 2018Article
- Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.European journal of human genetics : EJHG · 2018Article
- NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.Human mutation · 2018Article
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9 authors.
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Abstract
backgroundDiagnostic testing for genetic cardiomyopathies has undergone dramatic changes in the last decade with next generation sequencing (NGS) expanding the number of genes that can be interrogated simultaneously. Exon resolution copy number analysis is increasingly incorporated into routine diagnostic testing via cytogenomic arrays and more recently via NGS. While NGS is an attractive option for laboratories that have no access to array platforms, its higher false positive rate requires weighing the added cost incurred by orthogonal confirmation against the magnitude of the increase in diagnostic yield. Although copy number variants (CNVs) have been reported in various cardiomyopathy genes, their contribution has not been systematically studied.
methodsWe performed single exon resolution NGS-based deletion/duplication analysis for up to 46 cardiomyopathy genes in >1400 individuals with cardiomyopathies including HCM, DCM, ARVC, RCM, and LVNC. RESULTS AND
conclusionClinically significant deletions and duplications were identified in only 9 of 1425 (0.63%) individuals. The majority of those (6/9) represented intragenic events. We conclude that the added benefit of exon level deletion/duplication analysis is low for currently known cardiomyopathy genes and may not outweigh the increased cost and complexity of incorporating it into routine diagnostic testing for these disorders.
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