{"id":"W4408389020","doi":"10.1093/bioadv/vbaf052","title":"RegionScan: a comprehensive R package for region-level genome-wide association testing with integration and visualization of multiple-variant and single-variant hypothesis testing","year":2024,"lang":"en","type":"article","venue":"Bioinformatics Advances","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Public Health Ontario; University of Toronto; Hospital for Sick Children; Lunenfeld-Tanenbaum Research Institute","funders":"Canadian Institutes of Health Research","keywords":"Computer science; Visualization; Linkage disequilibrium; Scalability; Genetic association; Data mining; Biology; Genetics; Allele; Haplotype; Single-nucleotide polymorphism; Database","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":[0.009181092,0.004039123,0.004203918,0.004804408,0.0009784553,0.004747396,0.007779616,0.001640702,0.1128876],"category_scores_gemma":[0.05138461,0.003240253,0.004627345,0.00473801,0.001341976,0.002497348,0.004633154,0.004126264,0.05276074],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001006237,"about_ca_system_score_gemma":0.004814169,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008307002,"about_ca_topic_score_gemma":0.008629513,"domain_scores_codex":[0.9940735,0.002463096,0.0005123357,0.001233391,0.001367357,0.0003504157],"domain_scores_gemma":[0.9700943,0.02266415,0.001962989,0.002468177,0.002111986,0.0006984871],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.001297064,0.0000775291,0.006648113,0.004785891,0.002765904,0.001002006,0.0004574093,0.01864423,0.004023342,0.01815292,0.8450449,0.09710066],"study_design_scores_gemma":[0.002539093,0.0002600021,0.01167119,0.0017648,0.002208702,0.002063033,0.0002642066,0.1646365,0.01898853,0.1391267,0.6556448,0.0008325394],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"software","genre_scores_codex":[0.003311822,0.001845769,0.4841895,0.001197091,0.0004981379,0.0005553565,0.1370418,0.3658498,0.005510673],"genre_scores_gemma":[0.0513728,0.001692907,0.6124712,0.001972565,0.0004269122,0.00516051,0.09962779,0.2198152,0.007460272],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.1128876,"threshold_uncertainty_score":0.3776466,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05280040378514868,"score_gpt":0.2692107330626961,"score_spread":0.2164103292775474,"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."}}