TY - JOUR
T1 - Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
AU - Mates, J.
AU - Mademont-Soler, I.
AU - Fernandez-Falgueras, A.
AU - Sarquella-Brugada, G.
AU - Cesar, S.
AU - Arbelo, E.
AU - Garcia-Alvarez, A.
AU - Jorda, P.
AU - Toro, R.
AU - Coll, M.
AU - Fiol, V.
AU - Iglesias, A.
AU - Perez-Serra, A.
AU - Olmo, B. D.
AU - Alcalde, M.
AU - Puigmule, M.
AU - Pico, F.
AU - Lopez, L.
AU - Ferrer, C.
AU - Tiron, C.
AU - Grassi, S.
AU - Oliva, Antonio
AU - Brugada, J.
AU - Brugada, R.
AU - Campuzano, O.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - arrhythmias
KW - copy number variants
KW - human genetics
KW - sudden cardiac death
KW - arrhythmias
KW - copy number variants
KW - human genetics
KW - sudden cardiac death
UR - https://publicatt.unicatt.it/handle/10807/151078
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85082649859&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85082649859&origin=inward
U2 - 10.1016/j.fsigen.2020.102281
DO - 10.1016/j.fsigen.2020.102281
M3 - Article
SN - 1872-4973
SP - N/A-N/A/
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
IS - 47
ER -