{"id":"W4393342828","doi":"10.1186/s13223-024-00889-5","title":"Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients","year":2024,"lang":"en","type":"article","venue":"Allergy Asthma and Clinical Immunology","topic":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Latvijas Zinātnes Padome","keywords":"Hereditary angioedema; Exome sequencing; Genetic testing; Disease; Exome; Computational biology; Medicine; Bioinformatics; Genetics; Biology; Gene; Immunology; Phenotype; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007220691,0.0003759022,0.0003362609,0.0008028716,0.0003623551,0.0008236305,0.0002662178,0.0004362489,0.002327397],"category_scores_gemma":[0.003379123,0.00009587303,0.0002486977,0.0006003559,0.0002921567,0.0005534917,0.0004153672,0.0004897554,0.0004114814],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002792325,"about_ca_system_score_gemma":0.0005064877,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001835696,"about_ca_topic_score_gemma":0.002291577,"domain_scores_codex":[0.9996197,0.000147101,0.00004992045,0.00006691049,0.0000536925,0.00006255411],"domain_scores_gemma":[0.999338,0.0003188945,0.0001177992,0.00003754997,0.00008454153,0.0001031833],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000333629,0.00007673899,0.9004503,0.00007685757,0.00007474077,0.006742388,0.0003909747,0.0005587254,0.00308959,0.001215353,0.002988656,0.08400203],"study_design_scores_gemma":[0.00006966161,0.0003219183,0.9253219,0.0007075404,0.0003166705,0.03967207,0.001657153,0.007865921,0.003727257,0.00586172,0.01441531,0.00006287115],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9753346,0.006989712,0.003582683,0.003461142,0.0001163437,0.00008316105,0.0007126318,0.00008511302,0.009634645],"genre_scores_gemma":[0.9951775,0.001170462,0.002573434,0.0003638986,0.0001194593,0.00001301788,0.0002358242,0.000008159009,0.0003382665],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002327397,"threshold_uncertainty_score":0.007785857,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05526032891035042,"score_gpt":0.3417123454237855,"score_spread":0.286452016513435,"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."}}