{"id":"W4397028967","doi":"10.1155/2024/3043736","title":"Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1","year":2024,"lang":"en","type":"article","venue":"Human Mutation","topic":"Vascular Anomalies and Treatments","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Impact; University of Toronto","funders":"National Human Genome Research Institute; Knut och Alice Wallenbergs Stiftelse; Banca d'Italia; National Institute for Health and Care Research; Ministero dell’Istruzione, dell’Università e della Ricerca; National Cancer Institute; NIHR Imperial Biomedical Research Centre; Consejo Superior de Investigaciones Científicas; Vetenskapsrådet","keywords":"ACVRL1; Telangiectasia; Standardization; Computational biology; Gene; Medical genetics; Genetic testing; Genetics; Biology; Bioinformatics; Computer science; Medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009795378,0.00007341871,0.0001027566,0.00005236714,0.0001131428,0.0000233595,0.00003123096,0.0000375268,0.00003760694],"category_scores_gemma":[0.00005227002,0.00004925937,0.00008511668,0.00009825648,0.00002735571,0.00008818488,0.00001162412,0.00003531682,0.000008924219],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003171266,"about_ca_system_score_gemma":0.0000383552,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003287676,"about_ca_topic_score_gemma":0.00003585285,"domain_scores_codex":[0.9994496,0.00001628397,0.0002071301,0.0001460392,0.0001119016,0.00006905973],"domain_scores_gemma":[0.9995835,0.00003129981,0.0000441809,0.0001673981,0.0001501674,0.00002348398],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0003838955,0.001338449,0.02072966,0.005909585,0.004003282,0.0003711061,0.01453233,0.001265802,0.268204,0.2595075,0.05010448,0.37365],"study_design_scores_gemma":[0.009969922,0.001331949,0.7627848,0.001796667,0.006068512,0.002877865,0.005577636,0.05828879,0.03611373,0.04253823,0.07164846,0.001003396],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9784198,0.004782535,0.01093546,0.003579016,0.0003213375,0.0009914108,0.00005644103,0.00006613355,0.0008478435],"genre_scores_gemma":[0.9942434,0.00005111667,0.004193483,0.00006840768,0.0002825125,0.00005234105,0.0003477363,0.00001564184,0.0007453808],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7420552,"threshold_uncertainty_score":0.2008739,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1430954326633197,"score_gpt":0.3690467109597836,"score_spread":0.2259512782964639,"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."}}