{"id":"W4322766075","doi":"10.1038/s41562-023-01541-9","title":"Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence","year":2023,"lang":"en","type":"article","venue":"Nature Human Behaviour","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Neurological Institute and Hospital; Université de Montréal; McGill University; Centre Hospitalier Universitaire Sainte-Justine; Mila - Quebec Artificial Intelligence Institute","funders":"National Institute of Biomedical Imaging and Bioengineering; National Institute of Mental Health; National Institute on Aging; Helse Sør-Øst RHF; Medical Research Council; Health Canada; National Institute on Drug Abuse; Institut de Valorisation des Données; Centre Hospitalier Universitaire Vaudois; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Canada First Research Excellence Fund; Canadian Institute for Advanced Research; Norges Forskningsråd; Simons Foundation Autism Research Initiative; Canadian Institutes of Health Research; Compute Canada; Health and Care Research Wales; Wellcome Trust; Eunice Kennedy Shriver National Institute of Child Health and Human Development; European Commission; Fondation Brain Canada","keywords":"Phenome; Copy-number variation; Biology; Phenotype; Pleiotropy; Biobank; Genetics; Neuroscience; Evolutionary biology; Genome; 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":[0.0005276245,0.0004077662,0.0007063339,0.001941423,0.0003521174,0.0009433728,0.0005479747,0.0010053,0.002771804],"category_scores_gemma":[0.003175579,0.0002616863,0.0005267976,0.001118941,0.000759406,0.0006419013,0.001123185,0.0008046225,0.0002985212],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002885222,"about_ca_system_score_gemma":0.000270225,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001655145,"about_ca_topic_score_gemma":0.002878174,"domain_scores_codex":[0.9991555,0.00009276241,0.00006104056,0.0003450633,0.000218317,0.0001274027],"domain_scores_gemma":[0.9987947,0.000581277,0.0002544188,0.0001440727,0.0001008555,0.0001246548],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001302505,0.00008263977,0.1602123,0.0001463381,0.0006361211,0.008481029,0.0009968875,0.001778444,0.7649568,0.004841774,0.0009341119,0.05563116],"study_design_scores_gemma":[0.0000382469,0.00015612,0.9426661,0.00003468664,0.0002131427,0.01938686,0.0005260948,0.003186254,0.02425584,0.007185284,0.002288052,0.00006335486],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905835,0.0006050019,0.005623824,0.0002838752,0.00002541143,0.0000113114,0.0008656827,0.0001175395,0.001883967],"genre_scores_gemma":[0.9976744,0.0001980826,0.001206616,0.00009496406,0.0000181451,0.00001258652,0.0003711309,0.00005127649,0.000372759],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002771804,"threshold_uncertainty_score":0.009272575,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008374570529364479,"score_gpt":0.2546365161483812,"score_spread":0.2462619456190168,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}