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

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, long turna...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Chen, Chao, Li, Ru, Sun, Jun, Zhu, Yaping, Jiang, Lu, Li, Jian, Fu, Fang, Wan, Junhui, Guo, Fengyu, An, Xiaoying, Wang, Yaoshen, Fan, Linlin, Sun, Yan, Guo, Xiaosen, Zhao, Sumin, Wang, Wanyang, Zeng, Fanwei, Yang, Yun, Ni, Peixiang, Ding, Yi, Xiang, Bixia, Peng, Zhiyu, Liao, Can
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7866698/
https://ncbi.nlm.nih.gov/pubmed/33546747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-021-00836-8
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