{"id":"W2982381555","doi":"10.1001/jamapsychiatry.2019.3779","title":"Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition","year":2019,"lang":"en","type":"article","venue":"JAMA Psychiatry","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":93,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Holland Bloorview Kids Rehabilitation Hospital; University of Toronto; Université de Montréal; Institut Universitaire de Gériatrie de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Hospital for Sick Children","funders":"National Institute for Physiological Sciences; National Institute on Aging; School of Psychology, Cardiff University; National Institute of Mental Health; Helse Sør-Øst RHF; National Health and Medical Research Council; Canadian Institutes of Health Research; University of California, Los Angeles; Stiftelsen Kristian Gerhard Jebsen; National Institutes of Health; Haukeland Universitetssjukehus; Fujita Health University; Centro de Investigación Biomédica en Red de Salud Mental; Radboud Universiteit; RWTH Aachen University; Rheinische Friedrich-Wilhelms-Universität Bonn; University of Cape Town; Commissariat à l'Énergie Atomique et aux Énergies Alternatives; Institute of Psychiatry, Psychology and Neuroscience, King’s College London; Université Paris-Saclay; H. Lundbeck A/S; Cardiff University; Akershus Universitetssykehus; Deutsches Zentrum für Neurodegenerative Erkrankungen; National Center of Neurology and Psychiatry; Universitetet i Bergen; Astellas Pharma; Vincent Fairfax Family Foundation; Technische Universität Dresden; National Institute of Biomedical Imaging and Bioengineering; Amsterdam Neuroscience; National Alliance for Research on Schizophrenia and Depression; ZonMw; Queensland University of Technology; Fondation Brain Canada; Genentech; European Commission; National Institute for Health and Care Research; King's College London; Universitetet i Oslo; Norges Forskningsråd; Amsterdam University Medical Centers; Trinity College Dublin; National University of Ireland; University of Oxford; Neuroscience Research Australia; University of Southern California; Max Planck Instituut voor Psycholinguïstiek; Wellcome Trust; Royal College of Surgeons in Ireland; Norges Teknisk-Naturvitenskapelige Universitet; Science Foundation Ireland; Universität Basel; Medical Research Council; University of Galway; Biogen","keywords":"Copy-number variation; Cohort; Neuroimaging; Cognition; Population; Brain size; Effects of sleep deprivation on cognitive performance; Brain morphometry; Gene duplication; Psychology; Magnetic resonance imaging; Genetics; Medicine; Neuroscience; Internal medicine; Biology; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000116708,0.00007155591,0.0001139852,0.00001294487,0.00003825576,0.000009600081,0.00004525371,0.0001595348,0.00002611832],"category_scores_gemma":[0.0000369673,0.00005310481,0.00002942511,0.00005015481,0.00006219131,0.000007120358,0.00003854536,0.00007746818,0.000001980533],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007713988,"about_ca_system_score_gemma":0.00005639233,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002490597,"about_ca_topic_score_gemma":0.00002341689,"domain_scores_codex":[0.9993961,0.00007669439,0.0001873213,0.000150874,0.00009422038,0.00009474178],"domain_scores_gemma":[0.9995265,0.00002345042,0.0001842276,0.0001439331,0.00009760236,0.00002428806],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001950015,0.00006260616,0.9596778,0.00004915726,0.00007378993,1.223399e-7,0.00008552883,0.0000053613,0.03476165,0.00465614,0.0003615575,0.00007130748],"study_design_scores_gemma":[0.001404705,0.0002819354,0.9883478,0.00002797705,0.0001070903,0.00005849713,0.0002088562,0.00004950444,0.00831591,0.0008765107,0.0002310367,0.00009014673],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975697,0.00006190636,0.0003423327,0.0009884734,0.0001711035,0.0001401991,0.00001741852,0.000002917118,0.0007059931],"genre_scores_gemma":[0.998813,0.00005562917,0.0005864408,0.0001731135,0.00007434347,0.000005169333,0.0000255272,0.000007523403,0.0002592565],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02867005,"threshold_uncertainty_score":0.2165551,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00333801189572873,"score_gpt":0.1962596628573645,"score_spread":0.1929216509616358,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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