Article
Variant haplophasing by long-read sequencing: a new approach to preimplantation genetic testing workups.
Fertility and sterility - 1 Sept 2021
M M Yanfei Cheng, Yu Qian, Ma Minyue, Wang Hui, Tian Shuang, Zhang Wenling, M M Jinning Zhang, Liu Yifan, Yang Qi, Pan Xiao, Liang Hongbin, Wang Li, Leigh Don, Cram David S, Yao Yuanqing
Abstract excerpt
OBJECTIVE: To apply long-read, third-generation sequencing as a part of a general workup strategy for performing structural rearrangement (PGT-SR) and monogenic disease (PGT-M) embryo testing. DESIGN: Prospective study. SETTING: In vitro fertilization unit. PATIENT(S): Couples presenting for PGT-SR (n = 15) and PGT-M (n = 2). INTERVENTION(S): Blastocyst biopsy with molecular testing for translocation breakpoints...
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