Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation

Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation

Rare and undiagnosed diseases substantially decrease patient quality of life and have increasingly become a heavy burden on healthcare systems. Because of the challenges in disease-causing gene identification and mechanism elucidation, patients are often confronted with difficulty obtaining a precis...

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Bibliographic Details
Main Authors: Gang Wang, Yuyan Xu, Qintao Wang, Yi Chai, Xiangwei Sun, Fan Yang, Jian Zhang, Mengchen Wu, Xufeng Liao, Xiaomin Yu, Xin Sheng, Zhihong Liu, Jin Zhang
Format: Article
Language:English
Published: KeAi Communications Co. Ltd. 2022-11-01
Series:Fundamental Research
Subjects:
Rare and undiagnosed diseases
Next-generation sequencing
GWAS
WGS
Multiomics
iPSC
Online Access:http://www.sciencedirect.com/science/article/pii/S2667325822003636

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http://www.sciencedirect.com/science/article/pii/S2667325822003636

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