期刊
FORENSIC SCIENCE INTERNATIONAL-GENETICS
卷 18, 期 -, 页码 160-170出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.fsigen.2015.07.010
关键词
Genomic autopsy; Sudden cardiac death; Next generation sequencing
资金
- ISCIII-Subdireccion General de Evaluacion y Fomento de la Investigacion del Fondo Europeo de Desarrollo Regional (FEDER) [PI13/00933, RD12/0042/0037]
Sudden cardiac death in the young is a very traumatic event that occurs often in apparently healthy individuals without an explainable cause of death after a comprehensive medico-legal investigation. Knowledge about the pathologies with a risk of sudden death is increasingly showing a greater underlying genetic heterogeneity, which provides one of the main handicaps for molecular autopsy. On the other hand the enormous technological advances in sequencing technologies, allow us to analyse as many genes as we want at a cost increasingly reduced. The sum of these two factors (increased knowledge of genetics and available technologies) allow us to make an individualized study of the causes of sudden cardiac death in young adults, through massive sequencing of all potential genes involved in the process. We define this approach as massive genomic autopsy, and with this review we will try to explain the possible scenarios and methods available for its implementation. (C) 2015 Elsevier Ireland Ltd. All rights reserved.
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