{"id":"W4410629522","doi":"10.1016/j.bpsc.2025.05.010","title":"Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology","year":2025,"lang":"en","type":"article","venue":"Biological Psychiatry Cognitive Neuroscience and Neuroimaging","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; SickKids Foundation; University Health Network; University of Toronto; Centre Hospitalier Universitaire Sainte-Justine; Institute for Clinical Evaluative Sciences; Centre for Addiction and Mental Health","funders":"Cilag; FP7 Health; H2020 European Research Council; National Institute of Child Health and Human Development; National Institute of Biomedical Imaging and Bioengineering; National Institute of Mental Health; Norwegian Institute of Public Health; Faculty of Medicine and Health, University of Sydney; National Human Genome Research Institute; Helmholtz Zentrum München; Helse Sør-Øst RHF; National Health and Medical Research Council; Qatar Biomedical Research Institute, Hamad Bin Khalifa University; Perelman School of Medicine, University of Pennsylvania; National Institutes of Health; Medical Research Council; Sickkids Research Institute; New South Wales Government; Avera Institute for Human Genetics; Charles R. Drew University of Medicine and Science; Institut de Valorisation des Données; Instituto de Investigación Marqués de Valdecilla; Norwegian Biodiversity Information Centre; Freie Universität Berlin; Bundesministerium für Bildung und Forschung; Canada First Research Excellence Fund; Khalifa University of Science, Technology and Research; University of Cape Town; Commissariat à l'Énergie Atomique et aux Énergies Alternatives; Bergens Forskningsstiftelse; Université de Bordeaux; H. Lundbeck A/S; European Federation of Pharmaceutical Industries and Associations; Institut National de la Santé et de la Recherche Médicale; Humboldt-Universität zu Berlin; Universitair Medisch Centrum Groningen; Public Health Wales; Universitätsmedizin Göttingen; Universitetet i Bergen; Astellas Pharma; Helse Midt-Norge; Vetenskapsrådet; Hamad Bin Khalifa University; Helse Vest; Centre National de la Recherche Scientifique; Department of Health and Aged Care, Australian Government; Fudan University; School of Psychology, Cardiff University; Innovative Medicines Initiative; Siemens Healthineers; Fondation pour la Recherche Médicale; Société d'Accélération du Transfert de Technologies; Vrije Universiteit Amsterdam; ZonMw; Institute of Psychiatry, Psychology and Neuroscience, King’s College London; Koninklijke Nederlandse Akademie van Wetenschappen; National Natural Science Foundation of China; Karolinska Institutet; National Institute for Health and Care Research; University of Queensland; Sorbonne Université; Queensland University of Technology; Norges Forskningsråd; Stockholms Läns Landsting; University of New South Wales; South African Medical Research Council; Rijksuniversiteit Groningen; National Science Foundation; Natera; University of Toronto; King's College London; Imperial College London; Universidad de Sevilla; Royal College of Surgeons in Ireland; Psychiatry Research Trust; Universität Greifswald; Deutsche Forschungsgemeinschaft; Assistance publique-Hôpitaux de Paris; Biogen; Wellcome Trust; Agence Nationale de la Recherche; QIMR Berghofer Medical Research Institute; Ministry of Cultural Affairs; Australian Government; Haukeland Universitetssjukehus; Children's Hospital of Philadelphia; Simons Foundation Autism Research Initiative; Fédération pour la Recherche sur le Cerveau; University of Oxford; Neuroscience Research Australia; Canadian Institutes of Health Research; European Commission; University of Utah; Fondation Brain Canada; Norges Teknisk-Naturvitenskapelige Universitet; Georgia State University; Foundation for the National Institutes of Health; University of Southern California; Instituto de Salud Carlos III; Universidad de Cantabria; Universitetet i Oslo; Fondation de l'Avenir pour la Recherche Médicale Appliquée; Instituto de Física de Cantabria; Autism Speaks; Emory University; Technische Universität Dresden; Fondation de France; University of Pennsylvania; Queensland Brain Institute; Université Paris-Saclay; Hospital for Sick Children; Sunovion; Stanford Maternal and Child Health Research Institute; University of Roehampton; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; McGill University; Centre for Medical Systems Biology; Qatar Foundation; Servier; University of Galway; Cardiff University; Compute Canada; Science Foundation Ireland","keywords":"Penetrance; Copy-number variation; Morphology (biology); Biology; Evolutionary biology; Genetics; Phenotype; Gene; Genome","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":[0.000138626,0.0001466048,0.0001741798,0.00006197274,0.0001443391,0.00002357399,0.000137683,0.00007542953,0.00001810165],"category_scores_gemma":[0.0002022144,0.0001215049,0.0000323054,0.0003395324,0.0003928863,0.00001280868,0.000108966,0.0001502193,0.00000118672],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005646494,"about_ca_system_score_gemma":0.0001343208,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001211456,"about_ca_topic_score_gemma":0.00001114999,"domain_scores_codex":[0.9987525,0.0001455922,0.0002558642,0.0005126835,0.00008106609,0.000252322],"domain_scores_gemma":[0.9996274,0.00006856261,0.00008806334,0.0001005211,0.00007029597,0.00004518022],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001027056,0.0001812933,0.9108117,0.000005961203,0.000007538278,0.000007262965,0.00003820097,0.000003347226,0.08770169,0.0009667586,0.00004458865,0.0001290152],"study_design_scores_gemma":[0.0008076374,0.0002554058,0.993969,0.00003990782,0.00001294319,0.00004306996,0.0001100671,0.00009228646,0.004094994,0.0003881489,0.00005213037,0.0001343677],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996272,0.00005494688,0.00138516,0.0004164845,0.0002420858,0.0001612439,0.00005765601,0.00000943038,0.001400954],"genre_scores_gemma":[0.9959747,0.0001038592,0.0002385518,0.003550292,0.00001521753,0.00001441927,0.00001964897,0.000005923826,0.00007735661],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08360669,"threshold_uncertainty_score":0.4954827,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01725000001736202,"score_gpt":0.2717458432126625,"score_spread":0.2544958431953005,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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