{"id":"W2946764263","doi":"10.1186/s12969-019-0324-7","title":"Periodic fever syndromes: beyond the single gene paradigm","year":2019,"lang":"en","type":"review","venue":"Pediatric Rheumatology","topic":"Inflammasome and immune disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"University of British Columbia; Michael Smith Health Research BC; BC Children's Hospital","keywords":"MEFV; Familial Mediterranean fever; Disease; Medicine; Genetics; Phenotype; Gene; Allele; Epigenetics; Genotype-phenotype distinction; Bioinformatics; Biology; Mutation; Gene mutation; Internal medicine","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":[0.0005251309,0.0007865233,0.001447764,0.002229677,0.0003008001,0.0009606874,0.0008059726,0.00132625,0.003017902],"category_scores_gemma":[0.0009132492,0.0001855195,0.0004483932,0.001464077,0.0007142359,0.001491219,0.0007848212,0.002105294,0.001677042],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006129351,"about_ca_system_score_gemma":0.001000449,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008625207,"about_ca_topic_score_gemma":0.001417125,"domain_scores_codex":[0.9998154,0.00004448393,0.000030639,0.00002787474,0.00006133439,0.00002020517],"domain_scores_gemma":[0.9995537,0.0002627334,0.00005478867,0.00001312485,0.00007493481,0.00004058368],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007135053,0.00003816617,0.0002807074,0.01312383,0.00008414888,0.001065621,0.0001081445,0.000266038,0.0008481942,0.008235618,0.04586821,0.9300098],"study_design_scores_gemma":[0.00002090847,0.00007543099,0.0009003673,0.006551761,0.00009155754,0.00751253,0.0001036695,0.00008396969,0.0001598544,0.006106974,0.9783734,0.00001948579],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00006044682,0.9985273,0.00007748642,0.0004695963,0.0002408862,0.000001980835,0.000006491107,0.000004489541,0.0006112405],"genre_scores_gemma":[0.000534875,0.9981173,0.0001090647,0.0003613907,0.0004768194,0.000003476844,0.00001445111,0.000001224224,0.0003813404],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003017902,"threshold_uncertainty_score":0.01009589,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02555207935193243,"score_gpt":0.2724604093740001,"score_spread":0.2469083300220677,"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."}}