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

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. Recen...

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Veröffentlicht in:Sci Rep
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2021
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7952549/
https://ncbi.nlm.nih.gov/pubmed/33707551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-85128-2
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