Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.

doi:10.1016/j.gim.2022.12.002

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

Community

Back to search

Article

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2023

O'Neill Matthew J, Sala Luca, Denjoy Isabelle, Wada Yuko, Kozek Krystian, Crotti Lia, Dagradi Federica, Kotta Maria-Christina, Spazzolini Carla, Leenhardt Antoine, Salem Joe-Elie, Kashiwa Asami, Ohno Seiko, Tao Ran, Roden Dan M, Horie Minoru, Extramiana Fabrice, Schwartz Peter J, Kroncke Brett M

Abstract excerpt

PURPOSE: The congenital Long QT Syndrome (LQTS) and Brugada Syndrome (BrS) are Mendelian autosomal dominant diseases that frequently precipitate fatal cardiac arrhythmias. Incomplete penetrance is a barrier to clinical management of heterozygotes harboring variants in the major implicated disease genes KCNQ1, KCNH2, and SCN5A. We apply and evaluate a Bayesian penetrance estimation strategy that accounts for this...

Read the complete abstract on PubMed

Topics

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

Share to Arrhythmias, Cardiac

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bayes Theorem

Share to Cardiac electrophysiology and arrhythmias

Share to Channelopathies

Share to Genomics and Rare Diseases

Share to KCNQ1 Potassium Channel

Share to Mutation

Share to Penetrance

Source

Open in PubMed Open full text

Identifiers

PMID: 36496179
DOI: 10.1016/j.gim.2022.12.002
PMCID: PMC9992222

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.PMID 36496179Read ↗

Continuous Bayesian Variant Interpretation Accounts for Incomplete Penetrance among Mendelian Cardiac ChannelopathiesSemantic proximity Read ↗

A Bayesian method using sparse data to estimate penetrance of disease-associated genetic variantsSemantic proximity Read ↗

A Bayesian method to estimate variant-induced disease penetrance.Semantic proximity Read ↗

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.Semantic proximity Read ↗

Cohort-scale automated patch clamp data improves variant classification and penetrance stratification forSCN5A-Brugada SyndromeSemantic proximity Read ↗

Structural Evaluation ofRYR2-CPVT Missense Variants and Continuous Bayesian Estimates of their PenetranceSemantic proximity Read ↗

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variantsSemantic proximity Read ↗

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.Semantic proximity Read ↗

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.Semantic proximity Read ↗

Multiplexed Assays of Variant Effect and Automated Patch-clamping ImproveKCNH2-LQTS Variant Classification and Cardiac Event Risk StratificationSemantic proximity Read ↗

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.Semantic proximity Read ↗

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