Article

Continuous Bayesian Variant Interpretation Accounts for Incomplete Penetrance among Mendelian Cardiac Channelopathies

2022-07-09

Abstract excerpt

<h4>Background</h4> The congenital Long QT Syndrome (LQTS) and Brugada Syndrome (BrS) are Mendelian autosomal dominant diseases which 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 accou...

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Literature Corpus work: 89d0d939-fc50-558d-a540-38f2907362a4
DOI: 10.1101/2022.07.07.22277385

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