{"id":"W3012031705","doi":"10.1161/circulationaha.119.044320","title":"Novel Mutations and Decreased Expression of the Epigenetic Regulator <i>TET2</i> in Pulmonary Arterial Hypertension","year":2020,"lang":"en","type":"article","venue":"Circulation","topic":"Pulmonary Hypertension Research and Treatments","field":"Medicine","cited_by":121,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"Canadian Institutes of Health Research; Houston Methodist Research Institute; University of Colorado Denver; University of Minnesota; Medical Center, University of Rochester; Houston Methodist Hospital; University of Texas Southwestern Medical Center; Vanderbilt University Medical Center; Weill Cornell Medical College; National Center for Advancing Translational Sciences; Seattle Children's Research Institute; National Institutes of Health; Regeneron Pharmaceuticals; East Carolina University; University of Cincinnati; University of Pittsburgh; National Heart, Lung, and Blood Institute; University of South Carolina; University of Utah; Canadian Vascular Network; School of Medicine, Boston University; Cincinnati Children's Hospital Medical Center; Tufts Medical Center; University of Rochester; Queen's University; Ohio State University; Vanderbilt University","keywords":"Epigenetics; Medicine; DNA methylation; Germline mutation; Cohort; Germline; Internal medicine; Cancer research; Genetics; Endocrinology; Mutation; Biology; Gene; Gene expression","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003588158,0.0003481947,0.0002696292,0.0007621221,0.000316271,0.0004237924,0.0003238444,0.000688483,0.002364793],"category_scores_gemma":[0.00127723,0.0001733049,0.0002814093,0.000672079,0.0003601307,0.0001551278,0.0002816007,0.0002844629,0.0002250903],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000144418,"about_ca_system_score_gemma":0.0001114975,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001318358,"about_ca_topic_score_gemma":0.001268768,"domain_scores_codex":[0.9997309,0.00004594445,0.00002799246,0.0001119531,0.00005543127,0.00002778944],"domain_scores_gemma":[0.9992692,0.0002260873,0.0002806183,0.0000605181,0.00004696925,0.0001166425],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00132516,0.00008502158,0.9310532,0.00006164675,0.0002583017,0.00991359,0.0002653236,0.0004050266,0.04815644,0.0002252389,0.0004461675,0.007804739],"study_design_scores_gemma":[0.00004861829,0.0001629319,0.979057,0.00001047363,0.0001482061,0.01576825,0.00007045092,0.0007323229,0.003354693,0.0001237082,0.0005141189,0.000009141556],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990728,0.0001159881,0.0002958413,0.00002302148,0.000003954458,0.000004877091,0.0001979778,0.0000118076,0.0002738087],"genre_scores_gemma":[0.9996137,0.00003035342,0.000134673,0.00001578895,0.000008266143,0.000002252077,0.0001058254,0.000003797868,0.00008545737],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002364793,"threshold_uncertainty_score":0.007910967,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03695879216767973,"score_gpt":0.2581276605674445,"score_spread":0.2211688683997647,"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."}}