Article
Using whole exome sequencing and bioformatics in the molecular autopsy of a sudden unexplained death syndrome (SUDS) case.
Forensic science international - 1 Dec 2015
Wang Chun, Duan Shan, Lv Guoli, Lai Xiaoping, Chen Rui, Lin Hanguang, Qiu Shengyuan, Tang Jianpin, Kuang Wenjian, Xu Chuanchao
Abstract excerpt
Whole exome sequencing (WES) and bioinformatics analysis were used to investigate potential disease-causing gene mutations in a sudden unexplained death syndrome (SUDS) case after autopsy and pathology tests failed to suggest an obvious disease mechanism. Following whole exome sequencing, a 3-step bioinformatics filtering procedure was carried out to identify possible pathogenic genomic features. Single...
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