{"id":"W2987977317","doi":"10.1002/ajmg.a.61399","title":"Healthcare recommendations for Joubert syndrome","year":2019,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":121,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Neurological Disorders and Stroke; Medical Research Council; Medical Research Council Canada; Ministero della Salute; Fondazione Pierfranco e Luisa Mariani; Intramural Research Program; Northern Counties Kidney Research Fund; European Research Council; National Institutes of Health; Kidney Research UK","keywords":"Joubert syndrome; Health care; Medicine; Biology; Genetics; Political science","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0006765941,0.0003612969,0.001555545,0.0001339121,0.00006403283,0.00002862516,0.0008607833,0.0003442606,0.0001011464],"category_scores_gemma":[0.0004622759,0.0002877712,0.0009508362,0.0001880213,0.0002411508,0.00000179752,0.0001530072,0.0003749842,0.00002365813],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003468609,"about_ca_system_score_gemma":0.003036376,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000509366,"about_ca_topic_score_gemma":0.000003452552,"domain_scores_codex":[0.9970875,0.0003016945,0.001184099,0.0003600832,0.0006630817,0.0004035289],"domain_scores_gemma":[0.9970754,0.0001335943,0.0011897,0.0004701078,0.0002715403,0.0008596787],"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":[0.00002304088,0.00009684151,0.000008930756,0.001898648,0.0004736899,0.00001745784,0.00001318256,0.000001273784,0.000002498584,0.000006444378,0.05809678,0.9393612],"study_design_scores_gemma":[0.0003891067,0.002302799,0.00000449853,0.003492815,0.0007580761,0.001090568,0.00006886451,0.000003310759,0.000005022591,0.00001868561,0.9915733,0.0002930056],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001551774,0.9946884,0.001171858,0.002090007,0.001147416,0.000465697,0.0002465219,0.000003742997,0.00003121515],"genre_scores_gemma":[0.0001734869,0.994756,0.002256613,0.001070495,0.0008772765,0.00004867046,0.000388601,0.00007825269,0.000350608],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9390682,"threshold_uncertainty_score":0.9999574,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05956643393124729,"score_gpt":0.4001995463884659,"score_spread":0.3406331124572186,"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."}}