Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

Antonio Oliva, Jesus Mates, Irene Mademont-Soler, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Rocío Toro, Mónica Coll, Victoria Fiol, Anna Iglesias, Alexandra Perez-Serra, Bernat Del Olmo, Mireia Alcalde, Marta Puigmulé, Ferran Pico, Laura Lopez, Carles FerrerColoma Tiron, Josep Brugada, Ramon Brugada, Oscar Campuzano

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

5 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)N/A-N/A/
RivistaForensic Science International: Genetics
DOI
Stato di pubblicazionePubblicato - 2020

Keywords

  • arrhythmias
  • copy number variants
  • human genetics
  • sudden cardiac death

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