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Article

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

BMC medical genomics - 7 Nov 2019

Luo Haining, Chen Chao, Yang Yun, Zhang Yinfeng, Yuan Yuan, Wang Wanyang, Wu Renhua, Peng Zhiyu, Han Ying, Jiang Lu, Yao Ruqiang, An Xiaoying, Zhang Weiwei, Le Yanqun, Xiang Jiale, Yi Na, Huang Hui, Li Wei, Zhang Yunshan, Sun Jun

Abstract excerpt

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 to their offspring was recruited to this study. Customized capture probe targeted at USH2A gene and 350 kb flanking region...

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Identifiers

PMID: 31699113
DOI: 10.1186/s12920-019-0600-x
PMCID: PMC6836415

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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