{"id":"W3128273933","doi":"10.1038/s41398-021-01226-9","title":"The psychiatric phenotypes of 1q21 distal deletion and duplication","year":2021,"lang":"en","type":"article","venue":"Translational Psychiatry","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Centre Hospitalier Universitaire Vaudois; Cambridge Institute for Medical Research, University of Cambridge; Université de Lausanne; Canada Research Chairs; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; University College London; Medical Research Council; Cardiff University; International Seafood Sustainability Foundation; Universiteit Maastricht; University of Bath; Simons Foundation Autism Research Initiative; Waterloo Foundation; Wellcome Trust; Fondation Brain Canada; National Science Foundation; Queen Mary University of London; Wellcome; Simons Foundation; Health and Care Research Wales","keywords":"Psychopathology; Anxiety; Mood; Mood disorders; Gene duplication; Copy-number variation; Psychiatry; Schizophrenia (object-oriented programming); Intellectual disability; Medicine; Proband; Clinical psychology; Psychology; Genetics; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003051441,0.0003988188,0.0004124146,0.0007599931,0.0003139614,0.0002163317,0.0001595674,0.000271166,0.002136696],"category_scores_gemma":[0.001860122,0.0001770724,0.0002234931,0.0004760145,0.0004852902,0.0001780309,0.00054496,0.0002507934,0.0002194701],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000182672,"about_ca_system_score_gemma":0.0001474197,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001657013,"about_ca_topic_score_gemma":0.002297564,"domain_scores_codex":[0.999593,0.0001174551,0.00004097722,0.0001180082,0.00008439527,0.00004627616],"domain_scores_gemma":[0.9990929,0.0003165852,0.0004190916,0.00006170371,0.0000359239,0.00007375157],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000430656,0.00004769435,0.9446177,0.00009317455,0.0001557163,0.006138226,0.0007300883,0.0001745224,0.03051096,0.0001480377,0.0002350501,0.01671813],"study_design_scores_gemma":[0.000006225375,0.000115566,0.9832623,0.000009664761,0.00002349148,0.01553599,0.00009386094,0.00005278198,0.0005906052,0.00005846379,0.0002456589,0.000005375235],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989503,0.0003636431,0.000200635,0.00002328629,0.000001352537,0.000007394537,0.0001467258,0.000006346259,0.0003003693],"genre_scores_gemma":[0.9991711,0.0002680045,0.0002029977,0.00001411679,0.000006459453,0.000007391122,0.0002093624,0.000002137812,0.0001183504],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002136696,"threshold_uncertainty_score":0.007148027,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004515070141699216,"score_gpt":0.215354251076729,"score_spread":0.2108391809350298,"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."}}