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Article

Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.

Molecular genetics & genomic medicine - 1 Apr 2020

Modena Martina, Castiglione Vincenzo, Aretini Paolo, Mazzanti Chiara M, Chiti Enrica, Giannoni Alberto, Emdin Michele, Di Paolo Marco

Abstract excerpt

BACKGROUND: Sudden unexplained death (SUD) refers to cases of sudden death where autopsy fails to identify any cardiac or extracardiac underlying cause. Guideline-directed standard genetic testing identifies a disease-causing mutation in less than one-third of cases of SUD. Conversely, whole exome sequencing (WES) may provide the key to solve most cases of SUD even after several years from the subject's death....

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Identifiers

PMID: 32101375
DOI: 10.1002/mgg3.1182
PMCID: PMC7196487

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