{"id":"W4411572080","doi":"10.1111/cge.70008","title":"Diagnostic Utility of Exome Data Reanalysis After <i>In Silico</i> Multi‐Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University; Children's Hospital of Eastern Ontario; Children’s Health Research Institute; University of Ottawa","funders":"Genome Alberta; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Génome Québec; Ontario Research Foundation","keywords":"Exome sequencing; Intellectual disability; In silico; Epilepsy; Exome; Retrospective cohort study; Medicine; Cohort; Cohort study; Bioinformatics; Gene; Genetics; Psychiatry; Internal medicine; Biology; Mutation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004149566,0.0005060857,0.0004555638,0.00137421,0.000964046,0.001229867,0.0007072844,0.0003546199,0.000834136],"category_scores_gemma":[0.0108705,0.0003005972,0.0007441428,0.001437521,0.0005940262,0.0002927386,0.0007942622,0.000346861,0.0002389526],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002054277,"about_ca_system_score_gemma":0.003506556,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.2635404,"about_ca_topic_score_gemma":0.3135909,"domain_scores_codex":[0.9978398,0.0005538435,0.0002687505,0.0005763175,0.0004949557,0.0002663475],"domain_scores_gemma":[0.9938524,0.00121007,0.001099754,0.001718008,0.001890827,0.000228907],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008784971,0.000009305448,0.9957708,0.00001264726,0.0001582568,0.0002012963,0.0002403083,0.000105195,0.0008458163,0.00003708944,0.0001777535,0.002353774],"study_design_scores_gemma":[0.00001496004,0.00004840852,0.9954331,0.00002095458,0.0002215149,0.000752206,0.0003187631,0.001180059,0.0007553668,0.00004614664,0.00119233,0.00001630859],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958831,0.000278481,0.001282509,0.00006978782,0.000008206966,0.00007441994,0.001891346,0.00001505604,0.0004971995],"genre_scores_gemma":[0.996716,0.0001656116,0.0009686558,0.00005868679,0.000006033726,0.00003148058,0.001789689,0.00001209032,0.0002517831],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2635404,"threshold_uncertainty_score":0.5240128,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06658844027720238,"score_gpt":0.3627883091030915,"score_spread":0.2961998688258891,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}