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

• Main Authors: Ping Hu (Author), Fengchang Qiao (Author), Yuan Yuan (Author), Ruihong Sun (Author), Yan Wang (Author), Lulu Meng (Author), Ying Lin (Author), Hang Li (Author), Yaoshen Wang (Author), Rui Han (Author), Dong Liang (Author), Dingyuan Ma (Author), Tao Jiang (Author), Hui Jiang (Author), Zhengfeng Xu (Author)
• Format: Book
• Published: Elsevier, 2017-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...