Ontology highlight
ABSTRACT:
SUBMITTER: Huang Y
PROVIDER: S-EPMC10840194 | biostudies-literature | 2024 Feb
REPOSITORIES: biostudies-literature
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]