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Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples
Yong Huang1,2, Yuanyuan Xiao3, Shengqiu Qu3
1West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Abstract:
Whole-exome sequencing (WES) is widely used to diagnose complex genetic diseases and rare conditions. The implementation of a robust and effective quality control system for sample identification and tracking throughout the WES process is essential. We established a multiplex panel that included 22 coding single-nucleotide polymorphism (cSNP) loci. The personal identification and paternity identification abilities of the panel were evaluated, and a preliminary validation of the practical feasibility of the panel was conducted in a clinical WES case. These results indicate that the cSNP panel could be a useful tool for sample tracking in WES.
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