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Updated: Jul 2, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Cardiogenetics in Germany- a view and review]
1Institut für Genetik von Herzerkrankungen (IfGH), Spezialambulanz für Patienten mit genetischen Herzerkrankungen, Universitätsklinikum Münster (UKM), Domagkstr. 3, 48145, Münster, Deutschland. Eric.Schulze-Bahr@ukmuenster.de.
Abstract:
The development of the cardiogenetics field in Germany has been increasing since the mid-1990s with many national contributions, some of them were really important and groundbreaking. The starting point was and still is the patient and his family, e.g. with a familial form of arrhythmia or cardiomyopathy, the clarification of the genetic cause and the personalized treatment of those being affected. The scientific, always translationally oriented interest in identifying a causative gene and uncovering the underlying pathomechanisms has led to notable contributions for Brugada syndrome, short QT syndrome and cardiac conduction disorders or sinus node dysfunction, but also in DCM or ARVC. What is important, however, is always the way back (bench > bed side): implementation of national and international recommendations for cardiogenetic diagnostics in daily cardiological routine and the personalized care and therapy of those being affected.
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