{"id":"W3133589908","doi":"10.1038/s41398-021-01213-0","title":"1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans","year":2021,"lang":"en","type":"article","venue":"Translational Psychiatry","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; University of Calgary; University of Toronto; Hospital for Sick Children; Holland Bloorview Kids Rehabilitation Hospital; Institut Universitaire de Gériatrie de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Cilag; FP7 People: Marie-Curie Actions; European Social Fund; National Institute on Aging; Norwegian Institute of Public Health; National Institute of Mental Health; Helse Sør-Øst RHF; Instituto de Salud Carlos III; National Health and Medical Research Council; Canadian Institutes of Health Research; Stanley Center for Psychiatric Research, Broad Institute; National Institutes of Health; Ministry of Cultural Affairs; Heinz Nixdorf Stiftung; Norwegian Biodiversity Information Centre; H. Lundbeck A/S; Medical Research Council; Epilepsy Society; Siemens Healthineers; Mission Interministérielle de Lutte Contre les Drogues et les Conduites Addictives; University College London Hospitals NHS Foundation Trust; Universiteit Antwerpen; Fédération pour la Recherche sur le Cerveau; Norges Forskningsråd; Universitair Medisch Centrum Groningen; Japan Society for the Promotion of Science; Avera Institute for Human Genetics; Universitetet i Bergen; Fondation de France; EU Joint Programme – Neurodegenerative Disease Research; Rivierduinen; GGZ inGeest; Fonds Wetenschappelijk Onderzoek; Fonds De La Recherche Scientifique - FNRS; Institute of Psychiatry, Psychology and Neuroscience, King’s College London; Bundesministerium für Bildung und Forschung; Universiteit Maastricht; Stockholms Läns Landsting; National Institute on Drug Abuse; South London and Maudsley NHS Foundation Trust; Fondation pour la Recherche Médicale; Bergens Forskningsstiftelse; Japan Agency for Medical Research and Development; Svenska Forskningsrådet Formas; Vetenskapsrådet; Universiteit Utrecht; Helse Midt-Norge; National Institute of Child Health and Human Development; Hersenstichting; Eli Lilly and Company; Radboud Universiteit; Koninklijke Nederlandse Akademie van Wetenschappen; Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital; Institut National de la Santé et de la Recherche Médicale; European Science Foundation; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Deutsche Forschungsgemeinschaft; Norges Teknisk-Naturvitenskapelige Universitet; Baily Thomas Charitable Fund; Universität Greifswald; Agence Nationale de la Recherche; GGZ Friesland; King's College London; U.S. Department of Energy; Karolinska Institutet; International Seafood Sustainability Foundation; AXA Research Fund; Max Planck Instituut voor Psycholinguïstiek; Wellcome Trust; Universitetet i Oslo; Fondation de l'Avenir pour la Recherche Médicale Appliquée; FP7 Health; Waterloo Foundation; Harvard University; Massachusetts General Hospital; Science Foundation Ireland; ZonMw; Centre d'Imagerie BioMédicale; National Alliance for Research on Schizophrenia and Depression; European Commission; AstraZeneca; GGZ Drenthe; National Institute for Health and Care Research; Foundation for the National Institutes of Health","keywords":"Copy-number variation; Gene duplication; Cognition; Effects of sleep deprivation on cognitive performance; Autism; Schizophrenia (object-oriented programming); Brain size; Neuroscience; Neuroimaging; Medicine; Psychology; Magnetic resonance imaging; Psychiatry; Biology; Genetics; 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":[0.00004975797,0.0001043646,0.00009590014,0.00001817555,0.000112028,0.00003374899,0.00003363925,0.0000810492,0.0001802069],"category_scores_gemma":[0.00001140409,0.0001047569,0.00003326259,0.00008549004,0.00004778386,0.00001054072,0.00001020951,0.00007582637,0.000004361152],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005414846,"about_ca_system_score_gemma":0.0001757512,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001629664,"about_ca_topic_score_gemma":0.002711761,"domain_scores_codex":[0.9993338,0.00005202466,0.000158093,0.0002331274,0.00009094931,0.0001320334],"domain_scores_gemma":[0.9997344,0.00001600192,0.00004855443,0.00007475211,0.00008695658,0.00003935238],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008332252,0.0001948533,0.9915947,0.0000119659,0.0001116293,0.000004301544,0.0002547815,0.00009538452,0.0006892875,0.006788519,0.0001389944,0.00003225178],"study_design_scores_gemma":[0.001761704,0.00005061047,0.994581,0.00006264017,0.00004186595,0.00002406731,0.00063564,0.00004751802,0.0005207105,0.001945148,0.0001412151,0.0001878321],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933802,0.0002289716,0.001583171,0.0007891619,0.00009400561,0.00008995994,0.0004269007,0.000006840194,0.003400804],"genre_scores_gemma":[0.9967626,0.000008318639,0.0009286585,0.0002312082,0.0001141359,0.00001536647,0.001380449,0.00001245112,0.0005468566],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004843371,"threshold_uncertainty_score":0.4271862,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008246975354611089,"score_gpt":0.2350934380517104,"score_spread":0.2268464626970993,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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