{"id":"W3111759125","doi":"10.1161/circgen.120.003155","title":"Bayesian Inference Associates Rare <i>KDR</i> Variants With Specific Phenotypes in Pulmonary Arterial Hypertension","year":2020,"lang":"en","type":"article","venue":"Circulation Genomic and Precision Medicine","topic":"Pulmonary Hypertension Research and Treatments","field":"Medicine","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"Medical Research Council; National Heart, Lung, and Blood Institute; NIHR BioResource; Nederlandse Federatie van Universitair Medische Centra; Department of Health and Social Care; Goddard Space Flight Center; British Heart Foundation; Wellcome Trust; National Institute for Health and Care Research; Regeneron Pharmaceuticals; NHS Blood and Transplant","keywords":"Phenotype; Biology; Genome-wide association study; Gene; Genetics; Internal medicine; Medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002303225,0.00022843,0.000540784,0.0001649903,0.0001137213,0.00001950197,0.00007959298,0.0001238309,0.0004659839],"category_scores_gemma":[0.0002405847,0.0001406367,0.00003595504,0.0003478094,0.0001187143,0.0001361505,0.00005420771,0.0002338731,0.00004828176],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006697047,"about_ca_system_score_gemma":0.00009443437,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004445401,"about_ca_topic_score_gemma":0.000003416546,"domain_scores_codex":[0.9982113,0.0001090849,0.0004000441,0.0005327837,0.0004596908,0.0002870848],"domain_scores_gemma":[0.9988541,0.0002446021,0.0001037084,0.0002309175,0.0001376096,0.0004290409],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.006873759,0.0005753974,0.5861868,0.0001617561,0.0001715711,0.005472183,0.00113524,0.0001773156,0.2773928,0.00009176598,0.001942881,0.1198184],"study_design_scores_gemma":[0.00541265,0.0006363163,0.9775895,0.0003869564,0.00007026451,0.000346842,0.0002540431,0.01217412,0.00008170291,0.0004866988,0.002374202,0.0001866848],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864998,0.002117317,0.001747853,0.007383569,0.0001256847,0.0007195034,0.00001426195,0.00005398586,0.001338062],"genre_scores_gemma":[0.9964882,0.0009816373,0.0004881642,0.001401703,0.0003279775,0.00001339284,0.0001853336,0.00002677769,0.00008680412],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3914027,"threshold_uncertainty_score":0.5734999,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0402149974108441,"score_gpt":0.2656309218697018,"score_spread":0.2254159244588577,"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."}}