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Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions

BACKGROUND: Preimplantation genetic testing (PGT) has already been applied in patients known to carry chromosomal structural variants to improve the clinical outcome of assisted reproduction. However, conventional molecular techniques are not capable of reliably distinguishing embryos that carry bal...

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Pubblicato in:J Med Genet
Autori principali: Zhang, Shuo, Liang, Fan, Lei, Caixia, Wu, Junping, Fu, Jing, Yang, Qi, Luo, Xiao, Yu, Guoliang, Wang, Depeng, Zhang, Yueping, Lu, Daru, Sun, Xiaoxi, Liang, Yu, Xu, Congjian
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6860410/
https://ncbi.nlm.nih.gov/pubmed/31439719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105976
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