{"id":"W3186920055","doi":"10.1371/journal.pgen.1009684","title":"An autoimmune disease risk variant: A trans master regulatory effect mediated by IRF1 under immune stimulation?","year":2021,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Cancer-related molecular mechanisms research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"H2020 Marie Skłodowska-Curie Actions; National Human Genome Research Institute; Canadian Institutes of Health Research; Horizon 2020 Framework Programme; National Institutes of Health; National Institute of General Medical Sciences; National Institute of Mental Health; American Heart Association","keywords":"Biology; Expression quantitative trait loci; Enhancer; IRF1; Genetics; Genome-wide association study; Immune system; Transcription factor; Regulation of gene expression; Gene; SNP; Locus (genetics); Autoimmune disease; Single-nucleotide polymorphism; Computational biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002760833,0.0003249369,0.000280968,0.00006922137,0.0001756306,0.00007924404,0.0003378696,0.0003347806,0.000286043],"category_scores_gemma":[0.0001401036,0.0003465707,0.0001832109,0.0002567346,0.0001054243,0.000007367286,0.0001418578,0.0003067325,0.00003289787],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000570628,"about_ca_system_score_gemma":0.000350338,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008413171,"about_ca_topic_score_gemma":0.00001817588,"domain_scores_codex":[0.9972346,0.0005930022,0.0003793621,0.0007616604,0.0005234051,0.0005079672],"domain_scores_gemma":[0.9979647,0.00004381529,0.0001076438,0.001289403,0.0002333815,0.0003610218],"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":[0.000261673,0.0003118874,0.0002517915,0.00004903933,0.0003189551,0.00005190233,0.00004482607,0.009007343,0.9884071,0.00001498566,0.0002442265,0.001036211],"study_design_scores_gemma":[0.002101943,0.0005708691,0.004298935,0.00003544572,0.00028073,0.00001324621,0.00002385671,0.03160809,0.9571443,0.0001182454,0.003344793,0.0004596033],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9402053,0.01500563,0.04301053,0.000252305,0.0002167899,0.0006592407,0.000426426,0.00006629953,0.0001574221],"genre_scores_gemma":[0.9953111,0.0009371596,0.0004800927,0.0002099834,0.0001408708,0.00006913455,0.002192731,0.0001205855,0.0005382828],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05510581,"threshold_uncertainty_score":0.9998986,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008689326374451689,"score_gpt":0.2497555326906167,"score_spread":0.241066206316165,"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."}}