Article
Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2015
Xu Yan, Li Xuchao, Ge Hui-Juan, Xiao Bing, Zhang Yan-Yan, Ying Xiao-Min, Pan Xiao-Yu, Wang Lei, Xie Wei-Wei, Ni Lin, Chen Sheng-Pei, Jiang Wen-Ting, Liu Ping, Ye Hui, Cao Ying, Zhang Jing-Min, Liu Yu, Yang Zu-Jing, Chen Ying-Wei, Chen Fang, Jiang Hui, Ji Xing
Abstract excerpt
PURPOSE: This study demonstrates noninvasive prenatal testing (NIPT) for Duchenne muscular dystrophy (DMD) using a newly developed haplotype-based approach. METHODS: Eight families at risk for DMD were recruited for this study. Parental haplotypes were constructed using target-region sequencing data from the parents and the probands. Fetal haplotypes were constructed using a hidden Markov model through maternal...
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