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Updated: May 25, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Common genetic variation modulating cardiac ECG parameters and susceptibility to sudden cardiac death
Iris C R M Kolder1, Michael W T Tanck, Connie R Bezzina
1Heart Failure Research Center, Department of Experimental Cardiology, Academic Medical Center, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands.
Abstract:
Sudden cardiac death (SCD) is a prevalent cause of death in Western societies. Genome-wide association studies (GWAS) conducted over the last few years have uncovered common genetic variants modulating risk of SCD. Furthermore, GWAS studies uncovered several loci impacting on heart rate and ECG indices of conduction and repolarization, as measures of cardiac electrophysiological function and likely intermediate phenotypes of SCD risk. We here review these recent developments and their implications for the identification of novel molecular pathways underlying normal electrophysiological function and susceptibility to SCD.
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