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Original Article
Neurology
Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders
Keun Soo Lee, Seung Hwan Oh, Ja Young Lee, Go Hun Seo, Da Eun Roh, Ji Kyoung Park, Bo Lyun Lee
Clin Exp Pediatr. 2026;69(5):417-427.   Published online April 22, 2026
Question: What is the diagnostic utility of whole exome sequencing (WES) and whole genome sequencing (WGS) in unexplained neurodevelopmental disorders (NDDs)?
Finding: WES and WGS achieved a combined diagnostic yield of 39.1% in children with NDDs. Novel variants accounted for over half the pathogenic findings, and trio-based or phenotype-driven testing improved the diagnostic rate.
Meaning: Comprehensive genomic sequencing integrated with clinical phenotyping enhances diagnostic yield among children with NDDs.


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