{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003730793,0.0003320935,0.0002955339,0.0009328724,0.0002541889,0.0004288502,0.0003778814,0.0003823582,0.002449051],"category_scores_gemma":[0.002599105,0.0001915831,0.0001761569,0.0008636555,0.0003205399,0.0002186841,0.0002809048,0.0002190643,0.0002110128],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000233947,"about_ca_system_score_gemma":0.0001671287,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008068877,"about_ca_topic_score_gemma":0.0057502,"domain_scores_codex":[0.9996375,0.00006915884,0.00003898474,0.0001305284,0.00008892569,0.0000349357],"domain_scores_gemma":[0.9989549,0.0003247466,0.0004677028,0.00009321517,0.00008740334,0.00007211358],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004210916,0.0000229783,0.9927382,0.00001472378,0.0001247538,0.0004290037,0.00009837582,0.0001222477,0.003785313,0.00003333584,0.000116978,0.00209307],"study_design_scores_gemma":[0.0000104614,0.00004953657,0.998333,0.000004014109,0.00003097331,0.0009010735,0.00002642661,0.0002114344,0.0003071667,0.00002373011,0.00009932626,0.000002840481],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992301,0.0001122573,0.00009826806,0.00001346803,0.00000190755,0.000004075611,0.0003814306,0.000002714953,0.0001558362],"genre_scores_gemma":[0.9989666,0.00006570089,0.0001441525,0.000007765248,0.000006362531,0.000007533416,0.0005674863,0.000002502486,0.0002319516],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008068877,"threshold_uncertainty_score":0.01604384,"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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