{"id":"W4390609133","doi":"10.1017/cjn.2024.1","title":"A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources","year":2024,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Hospital for Sick Children; BC Children's Hospital; University of Toronto; Hotchkiss Brain Institute; Alberta Children's Hospital; Children's Hospital of Eastern Ontario; University of Calgary","funders":"Mitsubishi Tanabe Pharma Corporation; Sarepta Therapeutics; Children's Hospital Foundation; Ultragenyx Pharmaceutical; Public Health Agency; Cytokinetics; Alberta Children's Hospital Foundation; Muscular Dystrophy Canada; Public Health Agency of Canada; Biogen; Pfizer Canada; Alexion Pharmaceuticals; Pfizer","keywords":"SMA*; Spinal muscular atrophy; Medicine; Epidemiology; Incidence (geometry); Population; Neuromuscular disease; Pediatrics; Disease; Physical therapy; Environmental health; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"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":[0.002020599,0.0005071892,0.000604699,0.005306076,0.002152845,0.00148686,0.001183119,0.0004010436,0.00149738],"category_scores_gemma":[0.007891249,0.0004376335,0.0008844854,0.01651141,0.0004287956,0.0005304372,0.001270356,0.0006482268,0.0001968219],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.02310221,"about_ca_system_score_gemma":0.04364081,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9934041,"about_ca_topic_score_gemma":0.9931409,"domain_scores_codex":[0.9969626,0.0002429593,0.0003571979,0.000433714,0.001564327,0.0004390801],"domain_scores_gemma":[0.9903178,0.0007534187,0.001904217,0.0002463588,0.006114839,0.0006633563],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003524691,0.00001047591,0.9952604,0.00009100921,0.0001133996,0.00004655287,0.0002307539,0.0001113611,0.00008206281,0.0000719297,0.0007658757,0.003180853],"study_design_scores_gemma":[0.000007388489,0.00001554436,0.9976708,0.00006476945,0.00005738414,0.00007819336,0.0004891328,0.0004888144,0.00006519433,0.0000150812,0.001037964,0.000009695273],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9307423,0.001617039,0.0009804432,0.0004368849,0.00001706435,0.0002454107,0.06251118,0.00005996538,0.003389724],"genre_scores_gemma":[0.9754278,0.001218231,0.00167061,0.000145527,0.000008185338,0.0001451384,0.02072453,0.00001702615,0.0006429426],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02310221,"threshold_uncertainty_score":0.167619,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09749572027061193,"score_gpt":0.3353766638287971,"score_spread":0.2378809435581852,"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."}}