Article
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
BMC research notes - 3 Mar 2024
Hu Jianhong, Korchina Viktoriya, Zouk Hana, Harden Maegan V, Murdock David, Macbeth Alyssa, Harrison Steven M, Lennon Niall, Kovar Christie, Balasubramanian Adithya, Zhang Lan, Chandanavelli Gauthami, Pasham Divya, Rowley Robb, Wiley Ken, Smith Maureen E, Gordon Adam, Jarvik Gail P, Sleiman Patrick, Kelly Melissa A, Bland Harris T, Murugan Mullai, Venner Eric, Boerwinkle Eric, Prows Cynthia, Mahanta Lisa, Rehm Heidi L, Gibbs Richard A, Muzny Donna M
Abstract excerpt
OBJECTIVE: Data from DNA genotyping via a 96-SNP panel in a study of 25,015 clinical samples were utilized for quality control and tracking of sample identity in a clinical sequencing network. The study aimed to demonstrate the value of both the precise SNP tracking and the utility of the panel for predicting the sex-by-genotype of the participants, to identify possible sample mix-ups. RESULTS: Precise SNP...
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