title: Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young.
abstract: 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.
authors.affiliation: Xenética de Enfermidades Cardiovasculares, Instituto de Investigación Sanitaria de Santiago, Red de Investigación Cardiovascular (RIC), Santiago De Compostela, Spain; Grupo de Medicina Xenómica, University of Santiago de Compostela. Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain. Electronic address: maria.brion@usc.es.
authors.forename: M
authors.initials: M
authors.lastname: Brion
authors.affiliation: Grupo de Medicina Xenómica, University of Santiago de Compostela. Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Sobrino
authors.affiliation: Xenética de Enfermidades Cardiovasculares, Instituto de Investigación Sanitaria de Santiago, Red de Investigación Cardiovascular (RIC), Santiago De Compostela, Spain; Grupo de Medicina Xenómica, University of Santiago de Compostela. Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Martinez
authors.affiliation: Xenética de Enfermidades Cardiovasculares, Instituto de Investigación Sanitaria de Santiago, Red de Investigación Cardiovascular (RIC), Santiago De Compostela, Spain; Grupo de Medicina Xenómica, University of Santiago de Compostela. Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Blanco-Verea
authors.affiliation: Grupo de Medicina Xenómica, University of Santiago de Compostela. Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain; Centro de Investigación Biomédica en Red de Enfermedades Rara (CIBERER), Spain; Center of Excellence in Genomic Medicine, King Abdulaziz University, Jeddah, KSA, Saudi Arabia.
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
mesh_terms: D000328:Adult; D001344:Autopsy / Q000379:methods*; D009202:Cardiomyopathies / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000473:pathology*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D015994:Incidence; D015203:Reproducibility of Results; D055815:Young Adult
keywords: Genomic autopsy; Next generation sequencing; Sudden cardiac death