Noninvasive prenatal testing for β-thalassemia by targeted nanopore sequencing combined with relative haplotype dosage (RHDO): a feasibility study

Noninvasive prenatal testing for β-thalassemia by targeted nanopore sequencing combined with relative haplotype dosage (RHDO): a feasibility study

Abstract Noninvasive prenatal testing (NIPT) for single gene disorders remains challenging. One approach that allows for accurate detection of the slight increase of the maternally inherited allele is the relative haplotype dosage (RHDO) analysis, which requires the construction of parental haplotyp...

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Autores principales: Fuman Jiang, Weiqiang Liu, Longmei Zhang, Yulai Guo, Min Chen, Xiaojing Zeng, Yang Wang, Yufan Li, JiaJia Xian, BoLe Du, Yuhuan Xie, Shuming Ouyang, Sheng Li, Yinghong Yang, Chunsheng Zhang, Fei Luo, Xiaofang Sun
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/a9e696309ee54b9796c8e78e93f38f86
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https://doaj.org/article/a9e696309ee54b9796c8e78e93f38f86

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