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Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing

BACKGROUND: Though massively parallel sequencing has been widely applied to noninvasive prenatal screen for common trisomy, the clinical use of massively parallel sequencing to noninvasive prenatal diagnose monogenic disorders is limited. This study was to develop a method for directly determining p...

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Detalles Bibliográficos
Autores principales:	Chen, Chao, Chen, Min, Zhu, Yaping, Jiang, Lu, Li, Jia, Wang, Yaoshen, Lu, Zhe, Guo, Fengyu, Wang, Hairong, Peng, Zhiyu, Yang, Yun, Sun, Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502361/ https://www.ncbi.nlm.nih.gov/pubmed/34627256 http://dx.doi.org/10.1186/s12920-021-01091-x

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