{"id":"W2001188663","doi":"10.1038/ng.886","title":"Increased exonic de novo mutation rate in individuals with schizophrenia","year":2011,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":443,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; McGill University; Douglas Mental Health University Institute; Centre Hospitalier de l’Université de Montréal","funders":"Canadian Institutes of Health Research","keywords":"Proband; Genetics; Biology; Schizophrenia (object-oriented programming); Exome sequencing; Psychosis; Heritability; Genetic association; Mutation; Gene; Psychology; Genotype; Single-nucleotide polymorphism; 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":[0.0004492846,0.0005600621,0.0004973491,0.002398058,0.0004590881,0.0005718335,0.0003456067,0.0009341064,0.005591609],"category_scores_gemma":[0.002517041,0.0002880215,0.00041058,0.0007834156,0.0002966057,0.0003815374,0.0003446174,0.0005624951,0.0005153023],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001662991,"about_ca_system_score_gemma":0.0001766463,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001374106,"about_ca_topic_score_gemma":0.001074975,"domain_scores_codex":[0.9994571,0.0001287722,0.00009917509,0.0001549039,0.000102465,0.0000576814],"domain_scores_gemma":[0.9983504,0.000683778,0.0004888302,0.0001451532,0.0001505468,0.0001814209],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003042122,0.0001749299,0.7476864,0.0001372821,0.0004846148,0.01833732,0.0009626414,0.0008063808,0.2067621,0.0007842564,0.0007464637,0.02007553],"study_design_scores_gemma":[0.00004939704,0.0003488182,0.9463222,0.00003193068,0.0003204909,0.03792036,0.0004089993,0.001504063,0.01143885,0.0008681463,0.0007372821,0.00004930855],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985329,0.0001850248,0.0003915473,0.00005680533,0.00001858468,0.000003908463,0.0002979053,0.00002972079,0.0004836163],"genre_scores_gemma":[0.999143,0.00008186019,0.0002913266,0.00003113882,0.00001187523,0.000003324716,0.0001233276,0.00001735096,0.0002968012],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005591609,"threshold_uncertainty_score":0.01870579,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006587245054161709,"score_gpt":0.2242580129813921,"score_spread":0.2176707679272304,"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."}}