Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis DOI Creative Commons
Estefanía Martinez-Barrios, Andrea Greco, José Cruzalegui

et al.

Biomedicines, Journal Year: 2024, Volume and Issue: 12(11), P. 2553 - 2553

Published: Nov. 8, 2024

Inherited arrhythmogenic syndromes comprise a heterogenic group of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic testing has become crucial understand the disease etiology allow for early identification relatives at risk; however, it requires an accurate interpretation data achieve clinically actionable outcome. This is particularly challenging large number rare variants obtained by current high-throughput techniques, which are mostly classified as unknown significance.

Language: Английский

Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis DOI Creative Commons
Estefanía Martinez-Barrios, Andrea Greco, José Cruzalegui

et al.

Biomedicines, Journal Year: 2024, Volume and Issue: 12(11), P. 2553 - 2553

Published: Nov. 8, 2024

Inherited arrhythmogenic syndromes comprise a heterogenic group of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic testing has become crucial understand the disease etiology allow for early identification relatives at risk; however, it requires an accurate interpretation data achieve clinically actionable outcome. This is particularly challenging large number rare variants obtained by current high-throughput techniques, which are mostly classified as unknown significance.

Language: Английский

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