{"id":"W2900495132","doi":"10.1016/j.pediatrneurol.2018.11.005","title":"Diagnostic Yield of Intellectual Disability Gene Panels","year":2018,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; McGill University","funders":"","keywords":"Genetic testing; Consanguinity; Medicine; Global developmental delay; Intellectual disability; Cohort; Pediatrics; Genetics; Bioinformatics; Gene; Phenotype; Internal medicine; Biology; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008452615,0.0001142416,0.0001417448,0.0000295669,0.00004477524,0.000004188022,0.0001984124,0.0001258559,0.0001346412],"category_scores_gemma":[0.00162394,0.0001061429,0.00008612306,0.00009638252,0.0002650177,0.000001233807,0.0001686012,0.00006795076,0.00003470253],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002209511,"about_ca_system_score_gemma":0.00005408269,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000025598,"about_ca_topic_score_gemma":0.00001498263,"domain_scores_codex":[0.9991134,0.00006043064,0.0002127707,0.0003301884,0.00006332196,0.000219829],"domain_scores_gemma":[0.9991495,0.0002795562,0.00007287294,0.0003406378,0.00007701466,0.00008041583],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008572278,0.0008401737,0.7829351,0.00008881206,0.00008095259,0.00004688325,0.0002518558,0.00005167444,0.1988623,0.00007846979,0.0122843,0.003622237],"study_design_scores_gemma":[0.001300655,0.00855177,0.7156302,0.000002492937,0.0003129768,0.0002468665,0.00003954693,0.00008928886,0.2436967,0.0009194526,0.02841407,0.0007959893],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982126,0.0005098725,0.0003087463,0.0001557406,0.0004008812,0.0001184278,0.00004356658,0.000008706665,0.0002414541],"genre_scores_gemma":[0.9974059,0.0005471924,0.00004988496,0.0004563227,0.001451826,0.00001117386,0.00002827859,0.00001474384,0.00003471302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06730497,"threshold_uncertainty_score":0.4328381,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0119510618162613,"score_gpt":0.2309420215605255,"score_spread":0.2189909597442642,"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."}}