| Literature DB >> 32248082 |
Jesus Mates1, Irene Mademont-Soler2, Anna Fernandez-Falgueras1, Georgia Sarquella-Brugada3, Sergi Cesar4, Elena Arbelo5, Ana García-Álvarez5, Paloma Jordà5, Rocío Toro6, Mónica Coll1, Victoria Fiol4, Anna Iglesias7, Alexandra Perez-Serra7, Bernat Del Olmo1, Mireia Alcalde7, Marta Puigmulé1, Ferran Pico1, Laura Lopez1, Carles Ferrer1, Coloma Tiron8, Simone Grassi9, Antonio Oliva9, Josep Brugada10, Ramon Brugada11, Oscar Campuzano12.
Abstract
Over the last ten years, analysis of copy number variants has increasingly been applied to the study of arrhythmogenic pathologies associated with sudden death, mainly due to significant advances in the field of massive genetic sequencing. Nevertheless, few published reports have focused on the prevalence of copy number variants associated with sudden cardiac death. As a result, the frequency of these genetic alterations in arrhythmogenic diseases as well as their genetic interpretation and clinical translation has not been established. This review summarizes the current available data concerning copy number variants in sudden cardiac death-related diseases.Entities:
Keywords: arrhythmias; copy number variants; human genetics; sudden cardiac death
Year: 2020 PMID： 32248082 DOI： 10.1016/j.fsigen.2020.102281
Source DB: PubMed Journal: Forensic Sci Int Genet ISSN： 1872-4973 Impact factor: 4.882