Ontology highlight
ABSTRACT:
SUBMITTER: Luo H
PROVIDER: S-EPMC6836415 | biostudies-other | 2019 Nov
REPOSITORIES: biostudies-other
Luo Haining H Chen Chao C Yang Yun Y Zhang Yinfeng Y Yuan Yuan Y Wang Wanyang W Wu Renhua R Peng Zhiyu Z Han Ying Y Jiang Lu L Yao Ruqiang R An Xiaoying X Zhang Weiwei W Le Yanqun Y Xiang Jiale J Yi Na N Huang Hui H Li Wei W Zhang Yunshan Y Sun Jun J
BMC medical genomics 20191107 1
<h4>Background</h4>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.<h4>Methods</h4>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 were designed for PGT-M. Eleven blastocysts were biopsied and amplified ...[more]