{"id":"W4402597834","doi":"10.1016/j.ajhg.2024.08.020","title":"Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis","year":2024,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":26,"is_retracted":false,"has_abstract":false,"ca_institutions":"St. Michael's Hospital; Princess Margaret Cancer Centre","funders":"National Center for Advancing Translational Sciences; Helen Hamlyn Trust; National Institutes of Health; Rare Diseases Clinical Research Network; HHT Foundation International; Fondation Leducq; National Institute of Neurological Disorders and Stroke; American Heart Association; National Heart, Lung, and Blood Institute; U.S. Department of Defense","keywords":"Telangiectasia; Pathogenesis; Mutation; Germline mutation; Mechanism (biology); Allele; Somatic cell; Medicine; Genetics; Cancer research; Biology; Pathology; 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":[0.0008329505,0.0006277966,0.0004898683,0.002059755,0.0004031313,0.001016485,0.0007257229,0.001149835,0.004462919],"category_scores_gemma":[0.001907828,0.0002418364,0.0003750806,0.0007109694,0.0006398988,0.001193079,0.0008166583,0.0006336814,0.0007485753],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000229276,"about_ca_system_score_gemma":0.0002157555,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002658153,"about_ca_topic_score_gemma":0.0002753731,"domain_scores_codex":[0.9996042,0.00009913616,0.00004827356,0.00006147138,0.0001279572,0.0000589637],"domain_scores_gemma":[0.9991313,0.0003733941,0.0001480451,0.0001292077,0.0001113595,0.000106726],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.003885161,0.0005375653,0.2442371,0.0005582038,0.0005354297,0.0731409,0.001190991,0.002763925,0.5477637,0.0523537,0.001944867,0.07108843],"study_design_scores_gemma":[0.0007218909,0.002348751,0.3367379,0.0001618962,0.0008920992,0.3768106,0.001234484,0.03826638,0.1992055,0.03303343,0.01033534,0.0002516509],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9799191,0.001099162,0.01136247,0.0004815661,0.00008589905,0.00004432757,0.0001950793,0.0002432039,0.006569404],"genre_scores_gemma":[0.9960715,0.0003674376,0.002555484,0.00009193187,0.00004088874,0.000008702943,0.0001127472,0.00002017241,0.0007311893],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004462919,"threshold_uncertainty_score":0.01493001,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01275437779201347,"score_gpt":0.2808079741036252,"score_spread":0.2680535963116117,"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."}}