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

Authors: 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

Source: BMC Research Notes, Vol 17, Iss 1, Pp 1-8 (2024)

Subject Terms: Next-generation sequencing (NGS), Clinical testing, Sex concordance, SNP genotyping, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390

File Description: electronic resource

Relation: https://doaj.org/toc/1756-0500

Access URL: https://doaj.org/article/3d38e5b62ab94770bb1d2b0b1ce48ef7