{"id":"W4311752110","doi":"10.1093/ckj/sfac269","title":"Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure","year":2022,"lang":"en","type":"article","venue":"Clinical Kidney Journal","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University Health Network; Mount Sinai Hospital","funders":"Ministerie van Economische Zaken en Klimaat; Sanofi Genzyme; Sanofi","keywords":"Massive parallel sequencing; Massively parallel; Phenotype; Disease; Medicine; Biology; Computational biology; Genetics; DNA sequencing; Pathology; Computer science; Parallel computing; Gene","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":[0.0003997495,0.0006804453,0.0003581731,0.000738721,0.0004627176,0.0004240931,0.0003830901,0.001076984,0.001117431],"category_scores_gemma":[0.001212289,0.0001752392,0.0002832189,0.0003638049,0.000462184,0.0002549048,0.0004162121,0.0004413343,0.0002405793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002834785,"about_ca_system_score_gemma":0.0002453384,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009542833,"about_ca_topic_score_gemma":0.001167982,"domain_scores_codex":[0.9998016,0.00003331395,0.00002103109,0.00005390845,0.00003662655,0.00005364295],"domain_scores_gemma":[0.9993935,0.0002292592,0.0001377162,0.00002852674,0.00004617062,0.0001647642],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004399552,0.0001030475,0.2305852,0.00009185351,0.00003871596,0.7258704,0.0006890288,0.0005956352,0.0321037,0.0005516748,0.000790911,0.008139881],"study_design_scores_gemma":[0.00004037012,0.0002821629,0.2057152,0.00003937294,0.00005354072,0.7853475,0.000193194,0.001749809,0.00465194,0.000602798,0.001303098,0.0000208371],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975258,0.0003219346,0.0006681677,0.0001450154,0.00001149218,0.00001753786,0.0000754397,0.00002165452,0.001213032],"genre_scores_gemma":[0.9992257,0.00007679462,0.000437751,0.00007500601,0.00002317497,0.00000276758,0.00003294782,0.000003318472,0.0001224594],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001117431,"threshold_uncertainty_score":0.003738225,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04108096260359219,"score_gpt":0.3404580712327386,"score_spread":0.2993771086291464,"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."}}