Using whole exome sequencing and bioformatics in the molecular autopsy of a sudden unexplained death syndrome (SUDS) case

Chun Wang,Shan Duan,Guoli Lv,Xiaoping Lai,Rui Chen,Hanguang Lin,Shengyuan Qiu,Jianpin Tang,Wenjian Kuang,Chuanchao Xu

Forensic Science International（2015）

Cited 8|Views10

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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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