Genetic sex validation for sample tracking in next-generation sequencing clinical testing

Genetic sex validation for sample tracking in next-generation sequencing clinical testing

Abstract 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 pa...

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Hlavní autoři: Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V. Harden, David Murdock, Alyssa Macbeth, Steven M. Harrison, Niall Lennon, Christie Kovar, Adithya Balasubramanian, Lan Zhang, Gauthami Chandanavelli, Divya Pasham, Robb Rowley, Ken Wiley, Maureen E. Smith, Adam Gordon, Gail P. Jarvik, Patrick Sleiman, Melissa A. Kelly, Harris T. Bland, Mullai Murugan, Eric Venner, Eric Boerwinkle, the eMERGE III consortium, Cynthia Prows, Lisa Mahanta, Heidi L. Rehm, Richard A. Gibbs, Donna M. Muzny
Médium: Článek
Jazyk:English
Vydáno: BMC 2024-03-01
Edice:BMC Research Notes
Témata:
Next-generation sequencing (NGS)
Clinical testing
Sex concordance
SNP genotyping
On-line přístup:https://doi.org/10.1186/s13104-024-06723-w

Internet

https://doi.org/10.1186/s13104-024-06723-w

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