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Updated: Mar 20, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic variations involved in sudden cardiac death and their associations and interactions
Dazhen Wei1, Luyuan Tao2, Mingyuan Huang3
1Department of Intensive Care Unit, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325027, China.
Abstract:
Although the mechanism of sudden cardiac death (SCD) in heart failure is not completely known, genetic variations are known to play key roles in this process. Increasing numbers of mutations and variants are being discovered through genome-wide association studies. The genetic variations involved in the mechanisms of SCD have aroused widespread concern. Comprehensive understanding of the genetic variations involved in SCD may help prevent it. To this end, we briefly reviewed the genetic variations involved in SCD and their associations and interactions, and observed that cardiac ion channels are the core molecules involved in this process. Genetic variations involved in cardiac structure, cardiogenesis and development, cell division and differentiation, and DNA replication and transcription are all speculated to be loci involved in SCD. Additionally, the systems involved in neurohumoral regulation as well as substance and energy metabolism are also potentially responsible for susceptibility to SCD. They form an elaborate network and mutually interact with each other to govern the fate of SCD-susceptible individuals.
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Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...