{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001085288,0.0006928133,0.0008906052,0.002453906,0.0005171014,0.001100007,0.001712786,0.003792731,0.05370505],"category_scores_gemma":[0.006418976,0.0002747348,0.0009978499,0.001619489,0.0002811181,0.00143203,0.001269889,0.003016989,0.02762718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00139175,"about_ca_system_score_gemma":0.002868739,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008554484,"about_ca_topic_score_gemma":0.01549502,"domain_scores_codex":[0.9992925,0.0001656053,0.0001250533,0.00005584653,0.0002833714,0.00007755438],"domain_scores_gemma":[0.9980598,0.0005683175,0.0002114311,0.00004775858,0.0009056688,0.0002069805],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001622094,0.00002536335,0.0000660927,0.002344225,0.00001368417,0.0001203606,0.00003190105,0.00005171499,0.00008286587,0.001830414,0.7131669,0.2822503],"study_design_scores_gemma":[0.00001205217,0.000008783324,0.0002504212,0.003827862,0.0000137792,0.0002191152,0.00002416761,0.00001210286,0.00001922049,0.0005587839,0.9950473,0.000006349268],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0004198003,0.7902656,0.002086734,0.08544657,0.01810508,0.0004357148,0.004173813,0.0008839464,0.0981828],"genre_scores_gemma":[0.00290232,0.8465223,0.00830764,0.06054994,0.00509384,0.0007250254,0.006976489,0.0001137897,0.0688087],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.05370505,"threshold_uncertainty_score":0.1796613,"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."}}