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

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

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...

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Bibliographic Details
Main Authors: Weihua Zhao, Yanyan Song, Chuanfeng Huang, Shan Xu, Qi Luo, Runsi Yao, Nan Sun, Bo Liang, Jia Fei, Fangfang Gao, Jie Huang, Shoufang Qu
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Medical Genomics
Subjects:
Preimplantation genetic testing
Reference materials
Next-generation sequencing
Thalassemia
Monogenic disorders
Online Access:https://doi.org/10.1186/s12920-024-01803-z

Internet

https://doi.org/10.1186/s12920-024-01803-z

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