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

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

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...

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Bibliographic Details
Main Authors: Chao Chen, Min Chen, Yaping Zhu, Lu Jiang, Jia Li, Yaoshen Wang, Zhe Lu, Fengyu Guo, Hairong Wang, Zhiyu Peng, Yun Yang, Jun Sun
Format: Article
Language:English
Published: BMC 2021-10-01
Series:BMC Medical Genomics
Subjects:
Noninvasive prenatal diagnosis
Direct haplotype phasing
Targeted linked-read sequencing
Monogenic disease
Online Access:https://doi.org/10.1186/s12920-021-01091-x

Internet

https://doi.org/10.1186/s12920-021-01091-x

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