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

Scientific reports - 11 Mar 2021

Jiang Fuman, Liu Weiqiang, Zhang Longmei, Guo Yulai, Chen Min, Zeng Xiaojing, Wang Yang, Li Yufan, Xian JiaJia, Du BoLe, Xie Yuhuan, Ouyang Shuming, Li Sheng, Yang Yinghong, Zhang Chunsheng, Luo Fei, Sun Xiaofang

Abstract excerpt

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 haplotypes. Recently, the nanopore sequencing technologies have become available and may be an ideal tool for direct construction of...

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beta-Thalassemia
Family
Feasibility Studies
Haplotypes
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nanopore Sequencing

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PMID: 33707551
DOI: 10.1038/s41598-021-85128-2
PMCID: PMC7952549

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