{"id":"W4324044597","doi":"10.1038/s41588-023-01305-1","title":"Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations","year":2023,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Addiction and Mental Health; University of British Columbia; Queen's University","funders":"NIH Clinical Center; National Institute on Drug Abuse; National Institute of Mental Health; National Institute on Aging; European Regional Development Fund; Instituto de Salud Carlos III; National Health and Medical Research Council; SUNY Downstate Medical Center; Graduate School of Public Health, University of Pittsburgh; National Institutes of Health; State University of New York; University of Peshawar; Sorbonne Université; Australian Schizophrenia Research Bank; Medical Research Council; Università degli Studi di Brescia; Instituto de Investigación Sanitaria Gregorio Marañón; Innovative Medicines Initiative; European Commission; Universita degli Studi di Bari Aldo Moro; Queen's University; Institut National de la Santé et de la Recherche Médicale; Ministero della Salute; Universität Wien; Queensland Brain Institute; Karolinska Institutet; University of Queensland; Monash University; University of North Carolina at Chapel Hill; University of Wollongong; Cardiff University; Neuroscience Research Australia; Università degli Studi di Trento; Virginia Commonwealth University; University of New South Wales; University of Pittsburgh; Ministerio de Ciencia e Innovación; Johns Hopkins University; Centro de Investigación Biomédica en Red de Salud Mental; Feinstein Institutes for Medical Research; Fundación Alicia Koplowitz; F. Hoffmann-La Roche; Helsingin Yliopisto; Microsoft Research; Stanley Center for Psychiatric Research, Broad Institute; U.S. Department of Veterans Affairs; University of Pennsylvania; Broad Institute; Universidad de Granada; Medizinische Universität Wien; McLean Hospital; Massachusetts General Hospital; University College London; Brigham and Women's Hospital; Northwell Health; U.S. Department of Health and Human Services","keywords":"Biology; Genetics; Gene; Allele; Genetic architecture; 1000 Genomes Project; Genome-wide association study; Human genome; Allele frequency; Schizophrenia (object-oriented programming); Genome; Evolutionary biology; Computational biology; Single-nucleotide polymorphism; Phenotype; Genotype; Medicine","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":[0.001665695,0.0006213218,0.0007378289,0.001621719,0.0007670091,0.001067045,0.0004367016,0.0006228057,0.0020614],"category_scores_gemma":[0.003335512,0.0003283015,0.001217596,0.001672132,0.0007520986,0.0003254591,0.0009681102,0.0005592981,0.0001818421],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002270126,"about_ca_system_score_gemma":0.0002356651,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004415893,"about_ca_topic_score_gemma":0.004226089,"domain_scores_codex":[0.9983385,0.000514014,0.0001764561,0.0006424152,0.0002137788,0.0001147939],"domain_scores_gemma":[0.9983367,0.0005735143,0.0005452872,0.0003245283,0.00009025104,0.0001297438],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002011282,0.00005601143,0.9552816,0.0001913308,0.006982516,0.001532257,0.0004480037,0.001115732,0.01846568,0.0005273,0.0003971988,0.01299105],"study_design_scores_gemma":[0.0001029208,0.0002324971,0.9907956,0.00006323396,0.00219048,0.001675238,0.0002956167,0.001209476,0.001218345,0.001307183,0.0008809052,0.00002856682],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954354,0.001853406,0.001319529,0.0001173158,0.00001919464,0.00001050167,0.0007339246,0.00003143255,0.0004791715],"genre_scores_gemma":[0.998951,0.0004179668,0.0002380795,0.00003810403,0.00001247505,0.000005168182,0.0002872116,0.000007915794,0.00004203312],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004415893,"threshold_uncertainty_score":0.008809149,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02645051212567755,"score_gpt":0.3255666805153204,"score_spread":0.2991161683896428,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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