{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0608036,0.0008385457,0.0009543757,0.008828107,0.002251984,0.003733137,0.004262341,0.004090915,0.004959345],"category_scores_gemma":[0.128537,0.0008171109,0.00186174,0.003421294,0.001960803,0.001555208,0.002326209,0.004199204,0.004254359],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002725505,"about_ca_system_score_gemma":0.01238905,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01255358,"about_ca_topic_score_gemma":0.0162059,"domain_scores_codex":[0.9509128,0.01642521,0.01628595,0.001593582,0.01344419,0.001338185],"domain_scores_gemma":[0.852585,0.04576926,0.0105774,0.01080118,0.07737044,0.002896832],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00116923,0.0006086761,0.05408756,0.002467878,0.0002273839,0.003993511,0.003714895,0.004950196,0.02613246,0.02746716,0.4897166,0.3854644],"study_design_scores_gemma":[0.0003335028,0.0006030335,0.03444092,0.004698213,0.0003721582,0.01170574,0.001835328,0.008997937,0.03860288,0.01516807,0.8828633,0.00037875],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.134708,0.02522923,0.4779772,0.1121574,0.01141755,0.01664266,0.03159703,0.0114055,0.1788654],"genre_scores_gemma":[0.1297307,0.005925816,0.7753401,0.0246015,0.00129485,0.005616521,0.03502189,0.002017583,0.02045111],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.0608036,"threshold_uncertainty_score":0.321564,"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."}}