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Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples
- Source :
- BMC Genomics, Vol 25, Iss 1, Pp 1-11 (2024)
- Publication Year :
- 2024
- Publisher :
- BMC, 2024.
-
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.
Details
- Language :
- English
- ISSN :
- 14712164
- Volume :
- 25
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- BMC Genomics
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.59519a19e4414186171433b3d423be
- Document Type :
- article
- Full Text :
- https://doi.org/10.1186/s12864-024-10052-4