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Article

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

Scientific reports - 18 Dec 2019

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

Abstract excerpt

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 rare-disease management. In this study, 79 individuals from 16 independent families were performed for whole-genome...

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Identifiers

PMID: 31852928
DOI: 10.1038/s41598-019-55832-1
PMCID: PMC6920370

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