{"id":"W2588973060","doi":"10.1093/ndt/gfw141.01","title":"MO059RISK FACTORS FOR SEVERE RENAL DISEASE IN BARDET-BIEDL SYNDROME - PHENOTYPIC AND GENOTYPIC ANALYSES OF THE LARGEST REPORTED AFFECTED COHORT","year":2016,"lang":"en","type":"article","venue":"Nephrology Dialysis Transplantation","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Thomas Hospital","funders":"","keywords":"Medicine; Bardet–Biedl syndrome; Cohort; Pediatrics; Disease; Phenotype; Genotype; Kidney disease; Internal medicine; Genetics; 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":[0.0003610562,0.0005716705,0.0004196513,0.001466587,0.0009393647,0.0007263308,0.0005582833,0.0004745667,0.004115071],"category_scores_gemma":[0.001528084,0.0004043602,0.0004662723,0.0007952644,0.0003978899,0.0002176949,0.0007710048,0.00046051,0.0006651576],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002937638,"about_ca_system_score_gemma":0.0002654972,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007285597,"about_ca_topic_score_gemma":0.005567046,"domain_scores_codex":[0.999585,0.00008624013,0.00004166003,0.0001391268,0.00008277954,0.00006518356],"domain_scores_gemma":[0.9993618,0.0001355387,0.000149667,0.00006080831,0.00006443669,0.0002277244],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000363848,0.00008231188,0.9903215,0.00001198008,0.00007783713,0.003252753,0.0003040457,0.0000797899,0.002637732,0.00006643542,0.0003415013,0.002460381],"study_design_scores_gemma":[0.0000231535,0.0001201321,0.9908773,0.00001129185,0.00004183619,0.007924228,0.0002155012,0.000163933,0.0001867158,0.00003366579,0.0003932953,0.000008875462],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989483,0.00009008844,0.00009025991,0.00002424362,0.000003175674,0.000008894362,0.0004801215,0.000005351756,0.0003494702],"genre_scores_gemma":[0.9987465,0.0000849342,0.0001566344,0.00002606827,0.000008316201,0.00001429325,0.0006658506,0.00000718196,0.00029017],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007285597,"threshold_uncertainty_score":0.01448637,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01155735558251189,"score_gpt":0.2519197660650754,"score_spread":0.2403624104825635,"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."}}