{"id":"W3134653139","doi":"10.1038/s41467-021-21854-5","title":"Global discovery of lupus genetic risk variant allelic enhancer activity","year":2021,"lang":"en","type":"article","venue":"Nature Communications","topic":"Systemic Lupus Erythematosus Research","field":"Medicine","cited_by":83,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Allergy and Infectious Diseases; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institutes of Health; Cincinnati Children's Hospital Medical Center; U.S. Department of Veterans Affairs","keywords":"Enhancer; Biology; Genetics; Allele; Gene; Genome-wide association study; Transcription factor; Genotype; Single-nucleotide polymorphism","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0004026646,0.0002052097,0.0004848782,0.0007185596,0.0001295647,0.0003812872,0.000191339,0.0002489573,0.001606691],"category_scores_gemma":[0.000454891,0.0001991529,0.0003429026,0.0005857892,0.0001944655,0.0001048413,0.000372185,0.0004021751,0.000312724],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001528782,"about_ca_system_score_gemma":0.0001612443,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003705727,"about_ca_topic_score_gemma":0.001088199,"domain_scores_codex":[0.9996727,0.00005082053,0.00001675699,0.0001286882,0.00008392867,0.00004718571],"domain_scores_gemma":[0.9996823,0.0001156561,0.00007490451,0.00004957841,0.00002360801,0.00005393446],"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":[0.0003983353,0.00004274312,0.03451927,0.00008351317,0.0001121511,0.000230611,0.00008926537,0.0006400634,0.9476234,0.0003615958,0.0001428995,0.01575606],"study_design_scores_gemma":[0.0001198144,0.0008589653,0.4823713,0.00003701395,0.0003482251,0.003678894,0.0001692004,0.006331435,0.4965729,0.001310135,0.008151742,0.00005036577],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908331,0.0006472676,0.005598022,0.00005418361,0.000005313456,0.00001434498,0.001506183,0.0001271894,0.001214352],"genre_scores_gemma":[0.9930802,0.0002036446,0.004143336,0.00004585725,0.000006024791,0.00001478159,0.001927377,0.0000202438,0.000558537],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001606691,"threshold_uncertainty_score":0.005374968,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02268624462322932,"score_gpt":0.3487125854346899,"score_spread":0.3260263408114606,"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."}}