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


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.

SUBMITTER: Huang Y 

PROVIDER: S-EPMC10840194 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature

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

Huang Yong Y   Xiao Yuanyuan Y   Qu Shengqiu S   Xue Jiaming J   Zhang Lin L   Wang Li L   Liang Weibo W  

BMC genomics 20240205 1


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 feasibi  ...[more]

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