Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples

开发用于追踪全外显子组测序样本来源的编码 SNP 面板

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作者:Yong Huang #, Yuanyuan Xiao #, Shengqiu Qu, Jiaming Xue, Lin Zhang, Li Wang, Weibo Liang

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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