Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis

Abstract Background Preimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized PGT-M assay. Methods One couple at risk of transmitting Usher Syndrome t...

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Detalhes bibliográficos

Principais autores:	Haining Luo, Chao Chen, Yun Yang, Yinfeng Zhang, Yuan Yuan, Wanyang Wang, Renhua Wu, Zhiyu Peng, Ying Han, Lu Jiang, Ruqiang Yao, Xiaoying An, Weiwei Zhang, Yanqun Le, Jiale Xiang, Na Yi, Hui Huang, Wei Li, Yunshan Zhang, Jun Sun
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2019-11-01
coleção:	BMC Medical Genomics
Assuntos:	Preimplantation genetic testing Usher syndrome Targeted capture sequencing
Acesso em linha:	http://link.springer.com/article/10.1186/s12920-019-0600-x
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