{"id":"W4384665253","doi":"10.1007/s00109-023-02341-4","title":"Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome","year":2023,"lang":"en","type":"article","venue":"Journal of Molecular Medicine","topic":"Complement system in diseases","field":"Immunology and Microbiology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; London Health Sciences Centre; Western University","funders":"Alexion Pharmaceuticals; Academic Medical Organization of Southwestern Ontario; London Health Sciences Centre; AstraZeneca","keywords":"Atypical hemolytic uremic syndrome; Penetrance; Genetic testing; Medicine; Microangiopathic hemolytic anemia; Copy-number variation; Molecular diagnostics; Genetics; Cohort; Bioinformatics; Internal medicine; Gene; Biology; Immunology; Phenotype; Complement system; Thrombotic thrombocytopenic purpura; Antibody","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0004875585,0.0001329716,0.0008962491,0.00085969,0.00002734007,0.00000118055,0.0002428046,0.00007759895,0.0009820657],"category_scores_gemma":[0.000304745,0.00008995229,0.0001977366,0.001276103,0.0001590031,0.0000265307,0.00005333838,0.0001657885,0.000009868359],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004334506,"about_ca_system_score_gemma":0.00007571078,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001462161,"about_ca_topic_score_gemma":0.000007991699,"domain_scores_codex":[0.9983703,0.0001978736,0.0008305594,0.0001362396,0.0002440295,0.0002209635],"domain_scores_gemma":[0.9983202,0.0001423097,0.0007452147,0.0002803425,0.0004651081,0.00004687256],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009162018,0.000354889,0.8462667,0.00009933652,0.009125729,0.0002216626,0.0001892186,0.000107424,0.1409326,0.0001265874,0.001603094,0.00005649366],"study_design_scores_gemma":[0.003657194,0.001025699,0.9872319,0.0002733879,0.00413308,0.00005720402,0.0001367876,0.00001658221,0.003192025,0.000028938,0.0001687431,0.00007842528],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997463,0.001458072,0.0004640652,0.0001487918,0.0001624874,0.0002056805,0.00005386678,0.00001163698,0.00003233278],"genre_scores_gemma":[0.9996285,0.00001946023,0.00002690111,0.00005296075,0.00000969244,0.000002246682,0.0002039055,0.00001251883,0.0000437624],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1409652,"threshold_uncertainty_score":0.9999312,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006505794005008097,"score_gpt":0.2507053271091093,"score_spread":0.2441995331041012,"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."}}