{"id":"W2142677693","doi":"10.1016/j.ajhg.2010.07.019","title":"Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts","year":2010,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":249,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hôpital Rivière-des-Prairies; Montreal Heart Institute; Montreal Children's Hospital; Philips (Canada); McGill University; Douglas Mental Health University Institute; Centre Hospitalier de l’Université de Montréal; Université de Montréal","funders":"Université de Montréal; Génome Québec; Canada Research Chairs; Wellcome Trust; Genome Canada","keywords":"Genetics; Biology; Mutation rate; Autism; Mutation; Schizophrenia (object-oriented programming); Candidate gene; Population; Gene; Psychology; Medicine; 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":[0.002977074,0.0004647111,0.0005745455,0.003139325,0.0004778684,0.001217612,0.0008654406,0.001031679,0.003638261],"category_scores_gemma":[0.01593959,0.0004627337,0.0006315025,0.0008852248,0.0005228783,0.0005310557,0.001165812,0.0009439366,0.0008087854],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003289889,"about_ca_system_score_gemma":0.0002522132,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002210552,"about_ca_topic_score_gemma":0.003179064,"domain_scores_codex":[0.9972348,0.0008572871,0.0002466537,0.001082948,0.0004221669,0.0001561708],"domain_scores_gemma":[0.9878399,0.005993731,0.002679038,0.002022759,0.0006431334,0.0008214733],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006768605,0.0000533224,0.9786611,0.00006129252,0.0009630807,0.0004140069,0.0001997146,0.0007692399,0.008778191,0.000704175,0.0005422358,0.008176834],"study_design_scores_gemma":[0.00005460008,0.0002015507,0.9887996,0.00001585893,0.0002526563,0.00364583,0.0001221573,0.001938232,0.003152295,0.000808467,0.0009810849,0.00002771936],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908752,0.0005621955,0.002681676,0.0001104649,0.00003406123,0.00002607511,0.003407179,0.00009980144,0.002203429],"genre_scores_gemma":[0.9964811,0.0001204861,0.0009682354,0.0000473255,0.00002405528,0.00003301745,0.001298574,0.00003615477,0.0009909639],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003638261,"threshold_uncertainty_score":0.01574445,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00498844845199672,"score_gpt":0.2337562488713129,"score_spread":0.2287678004193162,"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."}}