Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases

Rare diseases are usually chronically debilitating or even life-threatening with diagnostic and therapeutic challenges in current clinical practice. It has been estimated that 80% of rare diseases are genetic in origin, and thus genome sequencing-based diagnosis offers a promising alternative for ra...

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Detalles Bibliográficos
Autores principales: Liu, Hong-Yan, Zhou, Liyuan, Zheng, Meng-Yue, Huang, Jia, Wan, Shu, Zhu, Aiying, Zhang, Mingjie, Dong, Anliang, Hou, Ling, Li, Jia, Xu, Haiming, Lu, Bingjian, Lu, Weiguo, Liu, Pengyuan, Lu, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6920370/
https://www.ncbi.nlm.nih.gov/pubmed/31852928
http://dx.doi.org/10.1038/s41598-019-55832-1

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