{"id":"W2152079029","doi":"10.1016/j.ajhg.2010.10.004","title":"Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia","year":2010,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":332,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University Health Network; Centre for Addiction and Mental Health; Mount Sinai Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Mental Health; Simons Foundation Autism Research Initiative","keywords":"Autism; Copy-number variation; Schizophrenia (object-oriented programming); Neurocognitive; Neurodevelopmental disorder; HNF1B; Autism spectrum disorder; Microdeletion syndrome; Medicine; Bioinformatics; Genetics; Phenotype; Biology; Psychiatry; Gene; Cognition; Genome","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":[0.0001917503,0.0004040102,0.0003381293,0.0009726756,0.000371413,0.0002223146,0.0002185582,0.0002775979,0.002084254],"category_scores_gemma":[0.001118254,0.0001856722,0.0002104927,0.0005734173,0.0002789108,0.00009933898,0.0003592054,0.0002373943,0.0002644022],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001883144,"about_ca_system_score_gemma":0.000236698,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00267966,"about_ca_topic_score_gemma":0.002668463,"domain_scores_codex":[0.9997136,0.00004972206,0.00003000173,0.00009261475,0.00007393503,0.00004013021],"domain_scores_gemma":[0.9996178,0.0001092776,0.0001476614,0.00002367603,0.00002434451,0.00007727739],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009938742,0.00008142942,0.8658303,0.00005829886,0.0002727191,0.01129334,0.0005085967,0.0004168007,0.09971399,0.0004316869,0.000611882,0.01978702],"study_design_scores_gemma":[0.00005149968,0.0002045292,0.9634511,0.00001927791,0.0001317047,0.02968288,0.0002087616,0.0006156576,0.004367938,0.0002816665,0.000969017,0.00001591715],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992973,0.0001146778,0.0001814385,0.00002343856,0.00000270774,0.000004056117,0.0001698695,0.00001262902,0.0001939654],"genre_scores_gemma":[0.9991084,0.0001140518,0.0003297678,0.00001295354,0.000007264124,0.000005045521,0.0002661916,0.000005035638,0.0001512394],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00267966,"threshold_uncertainty_score":0.006972551,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007152414639639425,"score_gpt":0.2370308410315275,"score_spread":0.2298784263918881,"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."}}