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

• Κύριοι συγγραφείς: Chao Chen (Συγγραφέας), Min Chen (Συγγραφέας), Yaping Zhu (Συγγραφέας), Lu Jiang (Συγγραφέας), Jia Li (Συγγραφέας), Yaoshen Wang (Συγγραφέας), Zhe Lu (Συγγραφέας), Fengyu Guo (Συγγραφέας), Hairong Wang (Συγγραφέας), Zhiyu Peng (Συγγραφέας), Yun Yang (Συγγραφέας), Jun Sun (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2021-10-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...