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A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.

2025-10-23 genetic and genomic medicine Title + abstract only
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Backgroundexome (ES) or genome (GS) sequencing are recommended as first- or second-tier molecular tests for patients with developmental disorders (DD), but the clinical utility of GS continues to be debated. MethodsThis prospective randomized trial involving all Belgian Human Genetics centers compared the standard of care (SoC) - combining ES and chromosomal microarray analysis or shallow GS - with GS for 567 individuals with unexplained DD. ResultsThe diagnostic yield of GS was 39.8% (113/284...

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