{"id":"W1850237252","doi":"10.1002/9781118524947.ch3","title":"The Mutational Spectrum of Neurodevelopmental Disorders","year":2015,"lang":"en","type":"other","venue":"","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital; Université de Montréal","funders":"","keywords":"Spectrum (functional analysis); Genetics; Biology; Medicine; Computational biology; Pediatrics; Physics","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002483361,0.0005956298,0.0002262253,0.002126317,0.0003509935,0.0005703328,0.000289998,0.0003756905,0.008448395],"category_scores_gemma":[0.000474793,0.00006294674,0.0002131233,0.001190491,0.000347221,0.0003885023,0.0005682338,0.0002668651,0.001158558],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002879729,"about_ca_system_score_gemma":0.000294448,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001219699,"about_ca_topic_score_gemma":0.001473138,"domain_scores_codex":[0.9998657,0.00001698889,0.00001560083,0.00002885671,0.00004866736,0.00002420217],"domain_scores_gemma":[0.9998525,0.00003133192,0.00003889,0.00001312652,0.00002591994,0.00003831596],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001105168,0.0001950791,0.1278482,0.0006499151,0.0001907242,0.05542497,0.0007390486,0.001431369,0.09893634,0.03865087,0.02145561,0.6533727],"study_design_scores_gemma":[0.000076161,0.0001861358,0.3234198,0.000977361,0.0004442929,0.2899638,0.000884585,0.001777685,0.04632168,0.02559613,0.3102881,0.00006421753],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.788009,0.03576043,0.004996333,0.001862023,0.000159153,0.00005448455,0.004605256,0.0003867288,0.1641665],"genre_scores_gemma":[0.9638497,0.01267389,0.002680453,0.0002455176,0.0001207897,0.00001755136,0.001970925,0.00009015658,0.01835113],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008448395,"threshold_uncertainty_score":0.02826267,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00558181413404801,"score_gpt":0.2168040167101846,"score_spread":0.2112222025761366,"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."}}