{"id":"W4391771437","doi":"10.1101/2024.02.12.24302716","title":"Fine-mapping genomic loci refines bipolar disorder risk genes","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Centre for Addiction and Mental Health; Dalhousie University","funders":"National Health and Medical Research Council; Canadian Institutes of Health Research; NIHR Maudsley Biomedical Research Centre; Stanley Center for Psychiatric Research, Broad Institute; National Institutes of Health; Vetenskapsrådet; National Institute of Mental Health; Stockholms Läns Landsting; Instituto de Salud Carlos III; Universitat de Barcelona; National Research Foundation; Medical Research Council; Università di Bologna; Department of Health and Social Care; National Research Foundation of Korea; King's College London; Departament d'Innovació, Universitats i Empresa, Generalitat de Catalunya; Victoria General Hospital Foundation; Generalitat de Catalunya; European Regional Development Fund; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Karl-Franzens-Universität Graz; Japan Agency for Medical Research and Development; Deutsche Forschungsgemeinschaft; Japan Society for the Promotion of Science; Medizinische Universität Graz; Amt der Steiermärkischen Landesregierung; GlaxoSmithKline; Centres de Recerca de Catalunya; Michael Smith Health Research BC; Maudsley Charity; Wellcome Trust; Ministerio de Ciencia e Innovación; European Commission; University of California, Irvine; Broad Institute; Ministerio de Economía y Competitividad; University of Pittsburgh; Centro de Investigación Biomédica en Red de Salud Mental; National Alliance for Research on Schizophrenia and Depression; U.S. Department of Health and Human Services","keywords":"Biology; Genetics; Single-nucleotide polymorphism; Computational biology; Exome sequencing; Gene; Epigenomics; Genome; Genome-wide association study; Phenotype; DNA methylation","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":[0.0009581895,0.0006577987,0.0006581061,0.001239409,0.000463918,0.0009734259,0.0003903733,0.000371869,0.009858491],"category_scores_gemma":[0.001673781,0.0003820405,0.0008965185,0.0007819318,0.0002000384,0.0002202125,0.0006596888,0.0008197321,0.002694029],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000353173,"about_ca_system_score_gemma":0.0004834394,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004153983,"about_ca_topic_score_gemma":0.009028096,"domain_scores_codex":[0.9996568,0.00004800532,0.00001673244,0.0001566026,0.00008158445,0.00004029597],"domain_scores_gemma":[0.9996186,0.0001552539,0.0000713429,0.00006587005,0.00004391868,0.00004486647],"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":[0.001880867,0.0001710825,0.1570919,0.001301394,0.001492223,0.001814611,0.0005817533,0.02151289,0.5497946,0.006580548,0.03744389,0.2203343],"study_design_scores_gemma":[0.001423363,0.0005190232,0.5625604,0.0007576147,0.002833423,0.00496757,0.0003598214,0.08758976,0.1854577,0.02485594,0.1283759,0.0002996811],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6930289,0.006986255,0.2112083,0.001357954,0.0003735429,0.0002588707,0.06067263,0.01159415,0.01451946],"genre_scores_gemma":[0.8327277,0.001942141,0.1250426,0.0008656061,0.0001164889,0.0001866879,0.03050115,0.002950165,0.005667426],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009858491,"threshold_uncertainty_score":0.03297991,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01272923759768916,"score_gpt":0.2410015949617662,"score_spread":0.2282723573640771,"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."}}