{"id":"W4390461395","doi":"10.1101/2023.12.30.23300391","title":"Germline and Somatic Mutations in DNA Methyltransferase 3A <i>(DNMT3A)</i> Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice: <i>Implications for Associated PAH</i>","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Pulmonary Hypertension Research and Treatments","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Institut universitaire de cardiologie et de pneumologie de Québec; Queen's University","funders":"National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Institutes of Health; Canadian Vascular Network","keywords":"Germline mutation; Somatic cell; Germline; Methyltransferase; Genetics; Internal medicine; Mutation; Medicine; DNA; Biology; Methylation; Gene","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":[0.0003720513,0.0002522067,0.0002388745,0.000810548,0.0002312647,0.0004278896,0.0001942235,0.0002899388,0.003338713],"category_scores_gemma":[0.0007941808,0.0001293751,0.0002597755,0.0005901423,0.0002345988,0.0001495737,0.0003291668,0.000253567,0.0002424602],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001392235,"about_ca_system_score_gemma":0.00009772556,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001281548,"about_ca_topic_score_gemma":0.001551377,"domain_scores_codex":[0.9996303,0.00006834728,0.00003925423,0.0001701564,0.00006340852,0.00002859483],"domain_scores_gemma":[0.999465,0.0001419705,0.0002536153,0.00005260344,0.00002914728,0.00005749052],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0009341502,0.00004783574,0.9027162,0.0001095837,0.0007249589,0.0007772802,0.0001098302,0.0003664217,0.07929296,0.0002700006,0.0006237541,0.01402691],"study_design_scores_gemma":[0.00002577476,0.0001337958,0.9878744,0.00002602879,0.0003261392,0.002993465,0.00009174376,0.001047569,0.00606601,0.000215119,0.001191379,0.000008469618],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959564,0.0005565144,0.0009489629,0.0000476898,0.000005608243,0.000007443857,0.00195536,0.00003349769,0.0004885222],"genre_scores_gemma":[0.9984713,0.0002321035,0.0003603624,0.00003522616,0.00000981053,0.000006002636,0.00070518,0.00000963625,0.0001704727],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003338713,"threshold_uncertainty_score":0.01116914,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06252730365566772,"score_gpt":0.3322259086063443,"score_spread":0.2696986049506766,"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."}}