{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002824606,0.0007572093,0.0005573961,0.001873322,0.0003962313,0.0006102857,0.0003276964,0.0005639381,0.003276685],"category_scores_gemma":[0.001575011,0.0002320961,0.00031474,0.001516801,0.0006334513,0.0001889125,0.0006192839,0.0003096304,0.0003033705],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002471756,"about_ca_system_score_gemma":0.0001555472,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00334397,"about_ca_topic_score_gemma":0.002541267,"domain_scores_codex":[0.99946,0.00008260368,0.00004164148,0.0002830956,0.00009754093,0.00003499672],"domain_scores_gemma":[0.99928,0.0001878262,0.0003831614,0.00007512915,0.00003236899,0.00004134873],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004114387,0.0001847675,0.6383191,0.0004328605,0.001496038,0.01399259,0.001738128,0.00222259,0.2792477,0.001801774,0.001701018,0.05474909],"study_design_scores_gemma":[0.00003546533,0.0001317361,0.9881086,0.00002421842,0.0002064253,0.006774274,0.00006997769,0.0003383621,0.002677042,0.0005313478,0.001080369,0.00002229294],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969231,0.0006602572,0.0006053512,0.00007086738,0.000005302174,0.00001066351,0.001002522,0.00003981093,0.0006820136],"genre_scores_gemma":[0.9982051,0.0003278877,0.0004458515,0.00003014423,0.00001372752,0.00001278119,0.0006064514,0.0000180123,0.0003400554],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00334397,"threshold_uncertainty_score":0.01096159,"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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