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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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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7952549/ https://www.ncbi.nlm.nih.gov/pubmed/33707551 http://dx.doi.org/10.1038/s41598-021-85128-2

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