{"id":"W1887013179","doi":"10.1038/ejhg.2015.218","title":"De novo variants in sporadic cases of childhood onset schizophrenia","year":2015,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":100,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital; Université de Montréal; Douglas Mental Health University Institute; McGill University","funders":"Canadian Institutes of Health Research; Genome Canada","keywords":"Proband; Exome sequencing; Missense mutation; Genetics; Biology; Autism; Loss function; Schizophrenia (object-oriented programming); Exome; Gene; Mutation; Medicine; Phenotype; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002103653,0.0006223266,0.0003339365,0.001603202,0.0005510175,0.0005038307,0.0002447048,0.0005385828,0.002249866],"category_scores_gemma":[0.001115479,0.0003135289,0.000323682,0.0008080824,0.0005069934,0.0001510546,0.0004707445,0.0002766818,0.0003167626],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003548787,"about_ca_system_score_gemma":0.000270449,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002291092,"about_ca_topic_score_gemma":0.003741602,"domain_scores_codex":[0.9996924,0.00004149665,0.00004492373,0.00008633022,0.00008077246,0.00005403427],"domain_scores_gemma":[0.9993891,0.0001389859,0.0002715105,0.00004904379,0.00004627083,0.0001051613],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001670608,0.0001350737,0.7589343,0.000135318,0.0002694856,0.1089864,0.001457396,0.0005553855,0.1150956,0.0007328367,0.0006404778,0.01138709],"study_design_scores_gemma":[0.0000956193,0.0003072542,0.8619311,0.00006163221,0.000211355,0.1219136,0.0008164152,0.0009034351,0.01068792,0.000666035,0.002360811,0.0000447611],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989457,0.0001890516,0.0001824449,0.00002142181,0.000006590104,0.000006968494,0.000154324,0.00001284251,0.000480692],"genre_scores_gemma":[0.9992799,0.0001514025,0.0002138743,0.00001356566,0.00000689236,0.000003917218,0.0001939086,0.000007418432,0.0001291067],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002291092,"threshold_uncertainty_score":0.007526577,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01892949069266168,"score_gpt":0.2475654825352821,"score_spread":0.2286359918426205,"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."}}