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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. |