{"id":"W2980829890","doi":"10.1016/j.ajhg.2019.09.010","title":"Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":138,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; St. Michael's Hospital","funders":"Fondation Leducq; National Institute of General Medical Sciences; U.S. Department of Defense","keywords":"ACVRL1; Telangiectasia; Haploinsufficiency; Germline mutation; Germline; Somatic cell; Genetics; Mutation; Allele; Biology; Phenotype; Endoglin; Medicine; Gene; Pathology","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":[0.0002195226,0.0005149308,0.0001832236,0.0008633281,0.000260787,0.0004325189,0.0004042464,0.000752607,0.004458934],"category_scores_gemma":[0.0006208461,0.0001727668,0.0002325085,0.0004285149,0.0004532352,0.000258871,0.0004916302,0.000445578,0.0007601659],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00021663,"about_ca_system_score_gemma":0.0001707185,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004011274,"about_ca_topic_score_gemma":0.000763882,"domain_scores_codex":[0.9997093,0.00004779086,0.00003959936,0.00005201273,0.0001100967,0.0000412185],"domain_scores_gemma":[0.9996907,0.00009245696,0.0001215119,0.00001876565,0.0000131152,0.00006343272],"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":[0.0007741955,0.0001796848,0.03076768,0.0001023273,0.0001489781,0.04561938,0.0002137203,0.0008807844,0.893243,0.002649524,0.0008423013,0.02457838],"study_design_scores_gemma":[0.0004506337,0.0006804263,0.1963727,0.00007513536,0.0003311004,0.3437011,0.0003893489,0.009956216,0.4319054,0.002022989,0.01401222,0.0001027983],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930946,0.0002833183,0.001835869,0.0001113011,0.00002691707,0.00001848646,0.0003775346,0.0001289311,0.004123203],"genre_scores_gemma":[0.9979481,0.00006641506,0.000964458,0.00002706459,0.00000757462,0.000004198389,0.0001592819,0.00002146526,0.0008013917],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004458934,"threshold_uncertainty_score":0.0149166,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01453488853536762,"score_gpt":0.2811249340288079,"score_spread":0.2665900454934403,"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."}}