New insights from trio whole ‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study

ConclusionsThe retrospective cohort study summarized the clinical utility of genetic testing in 133 probands, and expanded the phenotypic and genetic profiles of kidney disease in children. Trio-WES is an efficient diagnostic tool for children with kidney disease, which facilitates the clinical diagnosis and treatment. Our findings have important implications for the precise diagnosis of childhood nephropathy and may provide clinical guideline for disease management.

Source: Molecular Genetics & Genomic Medicine - May 30, 2023 Category: Genetics & Stem Cells Authors: Yi Chen, Yuanzhen Zhang, Jun Huang, Yugui Zeng, Yifang Qian, Junyan Chen, Guangming Chen, Guizhi Xia, Chengfeng Wang, Ai Feng, Zheng Li, Li Chen, Sirui Zheng, Fenrong Li, Zengfeng Weng, Chuanyin Zhang, Yuen Yang, Jinfeng Lin, Jinrong Wu, Tags: ORIGINAL ARTICLE Source Type: research