Using whole exome sequencing and bioformatics in the molecular autopsy of a sudden unexplained death syndrome (SUDS) case
Forensic Science International(2015)
Abstract
•A G643S mutation in the KCNQ1 gene was identified in one case of sudden unexplained death (SUDS).•A putative disease-causing variant was identified quickly by whole exome sequencing.•Molecular autopsy is an effective method to interpret the cause of death of SUDS.
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Key words
Forensic science,Forensic bioinformatics,Sudden unexplained death syndrome (SUDS),Second-generation sequencing,Exome,Disease mutations
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