Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing

• Main Authors: Weihua Zhao (Author), Yanyan Song (Author), Chuanfeng Huang (Author), Shan Xu (Author), Qi Luo (Author), Runsi Yao (Author), Nan Sun (Author), Bo Liang (Author), Jia Fei (Author), Fangfang Gao (Author), Jie Huang (Author), Shoufang Qu (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Objective Preimplantation genetic testing for monogenic disorders (PGT-M) has been used for over 20 years to detect many serious genetic conditions. However, there is still a lack of reference materials (RMs) to validate the test performance during the development and quality control of PGT...