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How do clinician and parent reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study(GenROC)

2025-09-05 genetic and genomic medicine Title + abstract only
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BackgroundParent/patient-reported datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders yet their concordance with clinical data is unclear. MethodsIn the GenROC study 547 children (mean age 7.6y, balanced sex ratio) had parallel parent-reported(PRD) web questionnaires and clinician-reported (CRD) Human Phenotype Ontology(HPO) proformas. We compared the two sources per participant by system, gene and gene group and overall for quantity, detail and similarit...

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