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

Abstract

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.

Keywords

• Coding single-nucleotide polymorphisms
• Whole-exome sequencing
• Sample tracking
• Personal identification
• Parentage test