{"id":"W3210517507","doi":"10.1007/s00109-021-02102-1","title":"Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy","year":2021,"lang":"en","type":"article","venue":"Journal of Molecular Medicine","topic":"Complement system in diseases","field":"Immunology and Microbiology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Concordia University; Université Laval; Hôtel-Dieu de Québec","funders":"Canadian Institutes of Health Research; Kidney Foundation of Canada","keywords":"Atypical hemolytic uremic syndrome; Thrombotic microangiopathy; Exome sequencing; Alternative complement pathway; Glomerulopathy; Exome; Eculizumab; Etiology; Candidate gene; Medicine; Immunology; Genetics; Biology; Complement system; Mutation; Pathology; Gene; Disease; Proteinuria; Kidney; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002137709,0.0002775436,0.0001569901,0.0006713101,0.000311745,0.0002822167,0.0001579585,0.0003930542,0.002348716],"category_scores_gemma":[0.0008464996,0.00007900511,0.0001642861,0.0005823062,0.0003123269,0.0001373651,0.0002528917,0.0001953213,0.0001590323],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000255193,"about_ca_system_score_gemma":0.0003751018,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01117526,"about_ca_topic_score_gemma":0.01392486,"domain_scores_codex":[0.9997843,0.00002868054,0.00003199643,0.00005750132,0.00006830529,0.00002929115],"domain_scores_gemma":[0.9997377,0.00007557405,0.00007566506,0.00001421859,0.00004858708,0.00004823951],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002312038,0.00003232281,0.9641091,0.00004788318,0.00006768787,0.01058646,0.0003212725,0.0001593554,0.01877758,0.0001503128,0.0002619952,0.005254835],"study_design_scores_gemma":[0.000005166109,0.0000544709,0.9827409,0.00001433505,0.00003280262,0.01414766,0.0001723715,0.0002181903,0.001999137,0.00005565415,0.0005547362,0.000004536431],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985324,0.0002799483,0.0002650571,0.00003487423,0.000003063006,0.00001094729,0.0003073628,0.000005398245,0.0005609143],"genre_scores_gemma":[0.9991054,0.0001463256,0.0002727002,0.00003682105,0.000004657528,0.000003440546,0.000233044,0.000002084307,0.0001956056],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01117526,"threshold_uncertainty_score":0.02222037,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007675957613822697,"score_gpt":0.2386911837026185,"score_spread":0.2310152260887958,"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."}}