{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000393181,0.0004696394,0.0003821694,0.0001340309,0.0001209828,0.0001145502,0.0005580361,0.0005044297,0.00006809727],"category_scores_gemma":[0.0001304048,0.0004376392,0.0003623469,0.000117936,0.00008161387,0.000001061026,0.00272924,0.0005592184,0.000171553],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002064535,"about_ca_system_score_gemma":0.000148903,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003181738,"about_ca_topic_score_gemma":0.0001649003,"domain_scores_codex":[0.9977179,0.000106763,0.0004814979,0.001054198,0.0001773708,0.0004622691],"domain_scores_gemma":[0.9985489,0.00001394547,0.0002261377,0.001011672,0.00008614478,0.0001132091],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000007475608,0.00006386557,0.3310619,0.0007948744,0.0006632105,0.00001606859,0.0001911968,0.001909588,0.5652935,0.0000246982,0.002539987,0.09743368],"study_design_scores_gemma":[0.0003315626,0.0001103268,0.1273515,0.0001846704,0.0002143713,0.00005922274,0.00007155992,0.001086853,0.03172645,0.000999027,0.8367829,0.001081521],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.90716,0.08961822,0.001119087,0.0002933677,0.001109648,0.0002629658,0.0001089109,0.00005220526,0.0002756135],"genre_scores_gemma":[0.9851944,0.007445786,0.00267854,0.00007929052,0.001239257,0.00008434542,0.0002947736,0.0001398438,0.002843721],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8342429,"threshold_uncertainty_score":0.9998075,"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."}}