Identificador: imarina:9326285
Autors:
Barberia Marcalain, Eneko
Resum:
Molecular autopsy makes it possible to identify the genetic alteration responsible for an inherited arrhythmogenic disease, main suspected cause of sudden death in cases that remain unexplained after a complete medico-legal autopsy. By using next-generation sequencing technology, a massive genetic study can be carried out that identifies a rare variant classified as potentially pathogenic in up to 25% of sudden death cases in the young population. To carry out a post-mortem genetic study, it is necessary to have samples in suitable conservation conditions. Our chapter focuses on the type of samples that are used today in massively parallel genetic analyses.
Repositori URV