{"id":"W1927420265","doi":"10.1111/cge.12464","title":"Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study","year":2014,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":91,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital; Alberta Children's Hospital; Children's Hospital of Eastern Ontario; McGill University; University of Calgary; McGill University and Génome Québec Innovation Centre; University of Ottawa","funders":"Canadian Institutes of Health Research; Genome Canada","keywords":"Exome sequencing; Epilepsy; Rare disease; Medicine; Pediatrics; Epilepsy syndromes; Disease; Genetics; Mutation; Encephalopathy; Bioinformatics; Gene; Biology; Pathology; Internal medicine; Psychiatry","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":[0.001027175,0.000360083,0.0003215564,0.001157802,0.0005001156,0.0006021576,0.0002934053,0.0003990932,0.001010003],"category_scores_gemma":[0.002769825,0.0003787023,0.0003654766,0.001121805,0.0004333614,0.0004624446,0.0005443105,0.0003598586,0.000355959],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000300949,"about_ca_system_score_gemma":0.0004231986,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00209061,"about_ca_topic_score_gemma":0.002713247,"domain_scores_codex":[0.9990101,0.0002222341,0.0001636455,0.0002996794,0.000188466,0.0001158663],"domain_scores_gemma":[0.9973341,0.0006802917,0.0008245829,0.0005116222,0.0004241635,0.0002251321],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009156438,0.00002843935,0.9895723,0.00002090632,0.00004752676,0.005089251,0.0003056719,0.00006448733,0.0009204824,0.0000711391,0.0001752208,0.003612973],"study_design_scores_gemma":[0.00001813587,0.0004051323,0.9221092,0.0000498355,0.0001747577,0.07094504,0.0008237563,0.0004178223,0.001040242,0.0001039208,0.003893085,0.00001910081],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997896,0.0004376789,0.000630993,0.0000316531,0.000003354659,0.00002323032,0.0003052513,0.000009215276,0.0006626917],"genre_scores_gemma":[0.9987549,0.0003178667,0.0002807594,0.00004669543,0.000008325698,0.00001473936,0.0004550372,0.00001107823,0.0001105513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00209061,"threshold_uncertainty_score":0.005432308,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02362737350728046,"score_gpt":0.3000914072620363,"score_spread":0.2764640337547558,"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."}}