Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping

Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping

Abstract Background Noninvasive prenatal testing (NIPT) of recessive monogenic diseases depends heavily on knowing the correct parental haplotypes. However, the currently used family-based haplotyping method requires pedigrees, and molecular haplotyping is highly challenging due to its high cost, lo...

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Bibliographic Details
Main Authors: Chao Chen, Ru Li, Jun Sun, Yaping Zhu, Lu Jiang, Jian Li, Fang Fu, Junhui Wan, Fengyu Guo, Xiaoying An, Yaoshen Wang, Linlin Fan, Yan Sun, Xiaosen Guo, Sumin Zhao, Wanyang Wang, Fanwei Zeng, Yun Yang, Peixiang Ni, Yi Ding, Bixia Xiang, Zhiyu Peng, Can Liao
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Genome Medicine
Subjects:
NIPT
Recessive monogenic diseases
Haplotypes
Population-based haplotyping
α-Thalassemia
β-Thalassemia
Online Access:https://doi.org/10.1186/s13073-021-00836-8

Internet

https://doi.org/10.1186/s13073-021-00836-8

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