Article
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.
Molecular genetics & genomic medicine - 1 Jul 2023
Chen Yi, Zhang Yuanzhen, Huang Jun, Zeng Yugui, Qian Yifang, Chen Junyan, Chen Guangming, Xia Guizhi, Wang Chengfeng, Feng Ai, Li Zheng, Chen Li, Zheng Sirui, Li Fenrong, Weng Zengfeng, Zhang Chuanyin, Yang Yuen, Lin Jinfeng, Wu Jinrong, Zhang Hannan, Ouyang Wenhua, Nie Xiaojing
Abstract excerpt
BACKGROUND: Kidney disease of children markedly affects their health and development. Limited clinical data of early-stage kidney disease render a tremendous challenge for the accurate diagnosis. Trio whole-exome sequencing (Trio-WES) is emerging as a first-line diagnostic strategy in pediatric kidney disease, and shows important implications for the precision medicine strategies of children with kidney disease....
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