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

• Главные авторы: Ping Hu (Автор), Fengchang Qiao (Автор), Yuan Yuan (Автор), Ruihong Sun (Автор), Yan Wang (Автор), Lulu Meng (Автор), Ying Lin (Автор), Hang Li (Автор), Yaoshen Wang (Автор), Rui Han (Автор), Dong Liang (Автор), Dingyuan Ma (Автор), Tao Jiang (Автор), Hui Jiang (Автор), Zhengfeng Xu (Автор)
• Формат: ‌
• Опубликовано: Elsevier, 2017-10-01T00:00:00Z.
• Предметы: article
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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...