{"id":"W4366082881","doi":"10.1161/circulationaha.122.061940","title":"<i>SOX17</i> Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension","year":2023,"lang":"en","type":"article","venue":"Circulation","topic":"Pulmonary Hypertension Research and Treatments","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"Nutrasource","funders":"National Heart, Lung, and Blood Institute; NIHR Sheffield Biomedical Research Centre; Medical Research Council; European Respiratory Society; Academy of Medical Sciences; NIHR BioResource; National Institutes of Health; Department of Health and Social Care; National Institute of General Medical Sciences; National Institute for Health and Care Research; Wellcome Trust; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; British Heart Foundation; NHS Blood and Transplant; American Heart Association","keywords":"Enhancer; Transcription factor; In silico; Medicine; Genetics; Bioinformatics; Biology; Gene","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":[0.0002579408,0.000452285,0.0002915404,0.0002383103,0.0001995774,0.0003365625,0.0003283694,0.0003492481,0.00456988],"category_scores_gemma":[0.0001837304,0.0002359083,0.0004597678,0.0001735076,0.0005257076,0.0001078431,0.0002462519,0.0009441157,0.001132504],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000320229,"about_ca_system_score_gemma":0.0002286353,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009163826,"about_ca_topic_score_gemma":0.001767302,"domain_scores_codex":[0.9996736,0.00007048569,0.00004265684,0.00008332074,0.00007807666,0.00005186742],"domain_scores_gemma":[0.999621,0.0001000016,0.0001408458,0.00004483381,0.00001408507,0.00007917741],"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":[0.0001712126,0.00006290277,0.0004323477,0.00004129527,0.00002341598,0.0002201979,0.00001639265,0.000192586,0.9974278,0.0002550657,0.0001825302,0.0009742957],"study_design_scores_gemma":[0.00007877859,0.0002971239,0.006540356,0.00002380449,0.00007639277,0.00121871,0.00004149761,0.003143695,0.9825282,0.0001704086,0.005869419,0.00001168275],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9812607,0.0005770483,0.01105825,0.0003183079,0.0001524246,0.00009996326,0.002927686,0.0005957231,0.00300987],"genre_scores_gemma":[0.9918114,0.0003001681,0.004147833,0.0001552145,0.0000235349,0.00006202004,0.00107459,0.0001878761,0.002237347],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00456988,"threshold_uncertainty_score":0.01528782,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04569286048645172,"score_gpt":0.3007841477022514,"score_spread":0.2550912872157997,"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."}}