Article

Genome sequencing based sequential diagnostic strategy improve diagnosed yield of pediatric genetic kidney disease: a national multicenter study

2026-07-31

Abstract excerpt

Genetic kidney disease (GKD) is a major cause of pediatric chronic kidney disease. Many patients remain genetically unresolved by exome sequencing (ES) and copy number variation (CNV) analysis. Genome sequencing (GS) enables a comprehensive detection of genetic variations. This study evaluates a GS-based sequential strategy to determine the diagnostic yield in pediatric GKD. We recruited families with GKD from a n...

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Literature Corpus work: 20e3aa27-4fb5-5370-aa8c-15e664a3d62d
DOI: 10.1038/s41525-026-00588-7

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