Article
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
EBioMedicine - 1 Apr 2020
Campuzano Oscar, Sarquella-Brugada Georgia, Fernandez-Falgueras Anna, Coll Mónica, Iglesias Anna, Ferrer-Costa Carles, Cesar Sergi, Arbelo Elena, García-Álvarez Ana, Jordà Paloma, Toro Rocío, Tiron de Llano Coloma, Grassi Simone, Oliva Antonio, Brugada Josep, Brugada Ramon
Abstract excerpt
BACKGROUND: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification. We aim to perform an exhaustive re-analysis of rare variants associated with inherited arrhythmogenic syndromes, which were classified ten years ago, to determine whether their classification aligns with...
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