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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Detalles Bibliográficos
Publicado en:J Med Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2019
Assuntos:
Chromosomal Rearrangements
Acceso en liña: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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