Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing

• Main Authors: Chao Chen (Author), Min Chen (Author), Yaping Zhu (Author), Lu Jiang (Author), Jia Li (Author), Yaoshen Wang (Author), Zhe Lu (Author), Fengyu Guo (Author), Hairong Wang (Author), Zhiyu Peng (Author), Yun Yang (Author), Jun Sun (Author)
• Format: Book
• Published: BMC, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 deter...