Noninvasive prenatal diagnosis of β‐thalassemia by relative haplotype dosage without analyzing proband

ConclusionThis research introduced SHAPEIT into the classical RHDO workflow and proved that it is applicable to construct parental haplotypes without information from other family members.

Source: Molecular Genetics & Genomic Medicine - September 29, 2019 Category: Genetics & Stem Cells Authors: Haoxian Li, Bole Du, Fuman Jiang, Yulai Guo, Yang Wang, Chunsheng Zhang, Xiaojing Zeng, Yuhuan Xie, Shuming Ouyang, Yexing Xian, Min Chen, Weiqiang Liu, Xiaofang Sun Tags: ORIGINAL ARTICLE Source Type: research