{"id":"W3003719033","doi":"10.1038/s41380-020-0654-3","title":"Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion","year":2020,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":135,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ontario Genomics; University of Toronto; SickKids Foundation; Toronto General Hospital; University Health Network; Centre for Addiction and Mental Health; Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Biomedical Imaging and Bioengineering; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute of Mental Health; Medical Research Council; National Science Foundation; Canadian Institutes of Health Research; Johns Hopkins University; National Center for Mental Health; Fonds Wetenschappelijk Onderzoek; Wellcome Trust; National Alliance for Research on Schizophrenia and Depression; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Institutes of Health; Ministerio de Economía y Competitividad","keywords":"Schizophrenia (object-oriented programming); Polygenic risk score; Population; Genome-wide association study; DiGeorge syndrome; Genetics; Psychosis; Genetic association; Deletion syndrome; Psychiatry; Biology; Psychology; Medicine; Gene; Single-nucleotide polymorphism; Genotype; Phenotype","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":[0.0004585987,0.001305306,0.0004021454,0.002452939,0.0007676431,0.0005762647,0.0005568168,0.0009148469,0.004645593],"category_scores_gemma":[0.002894089,0.0005515644,0.0005223057,0.001045163,0.0006633135,0.0002517238,0.0007238376,0.0008448476,0.0003288851],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002413232,"about_ca_system_score_gemma":0.0005151034,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004799304,"about_ca_topic_score_gemma":0.003023895,"domain_scores_codex":[0.9994367,0.0001876537,0.0000526433,0.0001109783,0.000120464,0.00009154584],"domain_scores_gemma":[0.9984093,0.0005471992,0.000570113,0.00007618972,0.00009273027,0.0003044414],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002833691,0.000234371,0.8975363,0.00004973741,0.0003498584,0.03521896,0.001012369,0.0009725132,0.05245758,0.00090195,0.0003408021,0.008091901],"study_design_scores_gemma":[0.0000525926,0.0003218748,0.9577565,0.00004511423,0.0003673304,0.03563987,0.0006549573,0.001216674,0.002569093,0.000861134,0.0004638243,0.00005103115],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989141,0.0001415172,0.0001909569,0.0001248124,0.00001049607,0.000005044141,0.0001077668,0.000008634024,0.0004967029],"genre_scores_gemma":[0.9991975,0.0001213263,0.0002851496,0.00001677518,0.00002384534,0.000003739745,0.00008274162,0.000007096376,0.0002617624],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004799304,"threshold_uncertainty_score":0.01554102,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006694694371570254,"score_gpt":0.2552979939786713,"score_spread":0.2486032996071011,"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."}}