{"id":"W4378233688","doi":"10.1016/j.xgen.2023.100330","title":"Systematic characterization of regulatory variants of blood pressure genes","year":2023,"lang":"en","type":"article","venue":"Cell Genomics","topic":"Bioinformatics and Genomic Networks","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Ted Rogers Centre for Heart Research; University of Toronto; Hospital for Sick Children","funders":"Institute of Genetics; Hospital for Sick Children; Canadian Institutes of Health Research; Ontario Genomics; Fundació la Marató de TV3; Canada Research Chairs; Heart and Stroke Foundation of Canada","keywords":"Biology; Gene; Genetics; Computational biology; Genetic architecture; Genome-wide association study; Genetic association; Quantitative trait locus; CRISPR; Transcription factor; Genotype; Single-nucleotide polymorphism","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":[],"consensus_categories":[],"category_scores_codex":[0.0002286292,0.000096066,0.0002110517,0.00004535302,0.00002479196,0.000006532317,0.0001716043,0.000137121,0.00000593161],"category_scores_gemma":[0.000009538067,0.00009361815,0.00007282028,0.00009124514,0.00003718642,0.00000253551,0.00009705082,0.00003138867,0.000007760356],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001912118,"about_ca_system_score_gemma":0.00005140417,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001422568,"about_ca_topic_score_gemma":4.432594e-7,"domain_scores_codex":[0.9992339,0.00002710152,0.0004093032,0.0001260398,0.00007235989,0.0001313192],"domain_scores_gemma":[0.9991961,0.000008296651,0.0003185143,0.0003777712,0.00006500761,0.00003430477],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001190578,0.00002575488,0.00008383414,0.00388401,0.0001490716,3.447437e-7,0.0001332824,0.0004876259,0.9949513,0.00007906043,0.00008101683,0.0001127559],"study_design_scores_gemma":[0.000471389,0.0001206782,0.002124748,0.0002121777,0.000387636,0.00000669031,0.0001045225,0.004334412,0.9909626,0.00007498748,0.00101,0.0001901201],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996383,0.001571998,0.0009987998,0.000005847129,0.0001844695,0.0002924803,0.00007044125,0.000009026312,0.0004839039],"genre_scores_gemma":[0.9973745,0.0007002337,0.0003443383,0.00002054576,0.0000941519,0.000009152432,0.0002303612,0.00001980935,0.001206874],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003988698,"threshold_uncertainty_score":0.3817637,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005043023269969908,"score_gpt":0.1812834871721594,"score_spread":0.1762404639021895,"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."}}