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Updated: Apr 17, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes
Manlio F Márquez1, David Cruz-Robles2, Selene Ines-Real2
1Departamento de Electrofisiología, Instituto Nacional de Cardiología Ignacio Chávez, México, D.F., Mexico.
Abstract:
Hereditary sudden cardiac death syndromes comprise a wide range of diseases resulting from alteration in cardiac ion channels. Genes involved in these syndromes represent diverse mutations that cause the altered encoding of the diverse proteins constituting these channels, thus affecting directly the currents of the corresponding ions. In the present article we will briefly review how to arrive to a clinical diagnosis and we will present the results of molecular genetic studies made in Mexican subjects attending the SCD Syndromes Clinic of the National Institute of Cardiology of Mexico City.
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