Noninvasive prenatal diagnosis of β-thalassemia by relative haplotype dosage without analyzing proband.
Haoxian LiBole DuFuman JiangYulai GuoYang WangChunsheng ZhangXiaojing ZengYuhuan XieShuming OuyangYexing XianMin ChenWeiqiang LiuXiao-Fang SunPublished in: Molecular genetics & genomic medicine (2019)
This research introduced SHAPEIT into the classical RHDO workflow and proved that it is applicable to construct parental haplotypes without information from other family members.