{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007296981,0.00006226677,0.00005127649,0.00001231496,0.0001470221,0.00001535083,0.00005341599,0.00005075429,0.00001814269],"category_scores_gemma":[0.000006659624,0.00005203429,0.00004873959,0.00006906729,0.00004997233,0.000003852899,0.00001074506,0.00003480728,0.000001938606],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001855138,"about_ca_system_score_gemma":0.0001166003,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005934961,"about_ca_topic_score_gemma":0.0001034219,"domain_scores_codex":[0.9995025,0.00002786465,0.0001721255,0.0001386213,0.00008189218,0.00007693291],"domain_scores_gemma":[0.9996904,0.00001269589,0.0000558773,0.0001387979,0.00007987726,0.00002234097],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"observational","study_design_scores_codex":[0.0003403188,0.0003541489,0.3035372,0.0001609265,0.000281677,3.21873e-7,0.0003283653,0.0007157901,0.1304194,0.5484469,0.002626891,0.01278814],"study_design_scores_gemma":[0.001565268,0.0001943626,0.8763164,0.00001819748,0.0001129053,0.00006753105,0.0006408039,0.0003574227,0.01612766,0.05091573,0.05330016,0.0003835005],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9800061,0.007341656,0.006273407,0.003962331,0.0002824416,0.00008370233,0.00005446663,0.000005727206,0.00199016],"genre_scores_gemma":[0.9955811,0.0003097998,0.003368673,0.00006957621,0.0001993829,0.000007732483,0.0002016729,0.000006755936,0.0002552981],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5727793,"threshold_uncertainty_score":0.2121897,"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."}}