Comprehensive preimplantation genetic testing by massively parallel sequencing

• Published in: Human reproduction (Oxford) Vol. 36; no. 1; pp. 236 - 247
• Main Authors: Chen, Songchang, Yin, Xuyang, Zhang, Sijia, Xia, Jun, Liu, Ping, Xie, Pingyuan, Yan, Huijuan, Liang, Xinming, Zhang, Junyu, Chen, Yiyao, Fei, Hongjun, Zhang, Lanlan, Hu, Yuting, Jiang, Hui, Lin, Ge, Chen, Fang, Xu, Chenming
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.01.2021
• Subjects: preimplantation genetic testing; structural rearrangements; PGT-M; monogenic disorders; aneuploidy; PGT-A; PGT-SR; massively parallel sequencing

Abstract STUDY QUESTION Can whole genome sequencing (WGS) offer a relatively cost-effective approach for embryonic genome-wide haplotyping and preimplantation genetic testing (PGT) for monogenic disorders (PGT-M), aneuploidy (PGT-A) and structural rearrangements (PGT-SR)? SUMMARY ANSWER Reliable gen...