Article
Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.
BMC medical genomics - 9 Oct 2021
Chen Chao, Chen Min, Zhu Yaping, Jiang Lu, Li Jia, Wang Yaoshen, Lu Zhe, Guo Fengyu, Wang Hairong, Peng Zhiyu, Yang Yun, Sun Jun
Abstract excerpt
BACKGROUND: Though massively parallel sequencing has been widely applied to noninvasive prenatal screen for common trisomy, the clinical use of massively parallel sequencing to noninvasive prenatal diagnose monogenic disorders is limited. This study was to develop a method for directly determining paternal haplotypes for noninvasive prenatal diagnosis of monogenic disorders without requiring proband's samples....
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