{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001387075,0.0001396555,0.00009818553,0.00006655615,0.00003677687,0.00001677603,0.0001734554,0.0002997694,0.00001892472],"category_scores_gemma":[0.0000406364,0.0001225365,0.00003735625,0.0001146839,0.00004318494,0.000001971728,0.00005228898,0.0001790766,0.000005384717],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001495497,"about_ca_system_score_gemma":0.0002138717,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001596498,"about_ca_topic_score_gemma":0.0001721893,"domain_scores_codex":[0.9992318,0.00005504703,0.0001321737,0.0002657921,0.00008336663,0.0002318332],"domain_scores_gemma":[0.9995226,0.000006040467,0.00006079478,0.0002525822,0.00006577434,0.00009221974],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001338456,0.0006676026,0.7264423,0.0000885032,0.0003192998,0.0004094248,0.0008867577,0.0006112725,0.2607968,0.0003785939,0.000908465,0.007152499],"study_design_scores_gemma":[0.002182945,0.0003750019,0.796441,0.00002269172,0.00005411166,0.00008887271,0.00009105755,0.00005421162,0.1963822,0.0006750015,0.003281028,0.0003517995],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963474,0.002685054,0.000130885,0.0000186727,0.00006122648,0.0001607493,0.00004089817,0.000008340442,0.0005467791],"genre_scores_gemma":[0.9930217,0.0002062027,0.005992339,0.0004182068,0.0001056073,0.00001741551,0.0001722043,0.00002555732,0.00004075754],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06999874,"threshold_uncertainty_score":0.4996893,"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."}}