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Updated: Jun 18, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Targeting device therapy: genomics of sudden death
J Michael Frangiskakis1, Barry London
1Division of Cardiology, Cardiovascular Institute, University of Pittsburgh Medical Center, Scaife S-572, 200 Lothrop Street, Pittsburgh, PA 15213-2582, USA.
None:
This article discusses the development and use of genomic predictors to define the population at risk for sudden cardiac death, which is usually defined as death from cardiac causes within an hour of symptom onset. The identification of genetic predictors of sudden death in heart failure is in its earliest stages. Mutations in ion channels have been shown to cause inherited forms of sudden death; there is, however, little evidence that mutations or rare single nucleotide polymorphisms (SNPs) in those genes are important causes of the common forms of sudden death. Other common variants in ion channels and related genes are associated with sudden death in the setting of acute myocardial infarction or heart failure. Ultimately, we hope to identify a handful of SNPs that modulate the risk of sudden death in heart failure and to develop an algorithm to predict risk based on genotype.
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