Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B

Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B

Objective: To apply a Hidden Markov Model to test Hemophilia B in a fetus by maternal plasma sequencing only employing proband and maternal haplotypes. Case Report: A family at risk for Hemophilia B was recruited in this study. We performed genetic diagnosis on the proband using our targeted capture...

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Bibliographic Details
Main Authors: Ping Hu, Fengchang Qiao, Yuan Yuan, Ruihong Sun, Yan Wang, Lulu Meng, Ying Lin, Hang Li, Yaoshen Wang, Rui Han, Dong Liang, Dingyuan Ma, Tao Jiang, Hui Jiang, Zhengfeng Xu
Format: Article
Language:English
Published: Elsevier 2017-10-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Massively parallel sequencing
Hemophilia B
Noninvasive prenatal diagnosis
Single-gene disorders
Target-gene capture
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455917302097

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http://www.sciencedirect.com/science/article/pii/S1028455917302097

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