Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

30 Aug 2023

Abstract excerpt

Understanding the penetrance of pathogenic variants identified as secondary findings (SFs) is of paramount importance with the growing availability of genetic testing. We estimated penetrance through large-scale analyses of individuals referred for diagnostic sequencing for hypertrophic cardiomyopathy (HCM; 10,400 affected individuals, 1,332 variants) and dilated cardiomyopathy (DCM; 2,564 affected individuals,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy and Myosin Studies
Share to Genetic Associations and Epidemiology
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37652022
DOI: 10.1016/j.ajhg.2023.08.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findingsPMID 37652022Read ↗

The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findingsSemantic proximity Read ↗

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathySemantic proximity Read ↗

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.Semantic proximity Read ↗

Association of Pathogenic/Likely Pathogenic Inherited Cardiomyopathy Variants With Heart Failure: A TOPMed Multiancestry Analysis.Semantic proximity Read ↗

Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General PopulationSemantic proximity Read ↗

The Frequency, Penetrance and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank ParticipantsSemantic proximity Read ↗

Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general populationSemantic proximity Read ↗

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.Semantic proximity Read ↗

Hypertrophic Cardiomyopathy – The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family ScreeningSemantic proximity Read ↗

Polygenic Background and Penetrance of Pathogenic Variants in Hypertrophic and Dilated CardiomyopathiesSemantic proximity Read ↗

Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variantsSemantic proximity Read ↗

Screening for Pathogenic Variants in Cardiomyopathy Genes Predicts Mortality and Composite Outcomes in UK BiobankSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.