{"id":"W4323652192","doi":"10.1017/cjn.2023.34","title":"Variability in Newborn Screening Across Canada: Spinal Muscular Atrophy and Beyond","year":2023,"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":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; BC Children's Hospital; Newborn Screening Ontario; University of Ottawa; Muscular Dystrophy Canada; McGill University; Children's Hospital of Eastern Ontario; McGill University Health Centre; Ontario Stroke Network","funders":"","keywords":"Spinal muscular atrophy; Medicine; Physical medicine and rehabilitation; Atrophy; Pathology; Disease","routes":{"ca_aff":true,"ca_fund":false,"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":[0.002966069,0.0002579607,0.0004477734,0.001633197,0.002797983,0.001432963,0.001454188,0.0004464019,0.001915948],"category_scores_gemma":[0.009545414,0.0002479342,0.000536165,0.005127894,0.001252249,0.0004491303,0.001562009,0.000665906,0.0001287106],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.03962297,"about_ca_system_score_gemma":0.04940904,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9934161,"about_ca_topic_score_gemma":0.9951583,"domain_scores_codex":[0.9940467,0.0008796536,0.0004128488,0.0009423123,0.002267426,0.001451071],"domain_scores_gemma":[0.992141,0.001130662,0.001677608,0.0002785666,0.003259734,0.001512491],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004531324,0.00001362442,0.9825858,0.0001010902,0.0000908167,0.0001159935,0.002542856,0.0003637292,0.0001844628,0.0005482754,0.002520901,0.01088715],"study_design_scores_gemma":[0.000002021842,0.000009878262,0.9956107,0.0001198878,0.00002124087,0.00007345829,0.002094944,0.0003553205,0.0000688681,0.0001090813,0.001520618,0.00001407687],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9702851,0.004042319,0.00134559,0.006468704,0.00007307273,0.00009860911,0.007964971,0.00005209255,0.009669488],"genre_scores_gemma":[0.9972342,0.0007406179,0.0003158446,0.0003621108,0.000007794391,0.00001796049,0.0009135991,0.000009351467,0.000398447],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.960377,"threshold_uncertainty_score":0.2874862,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03791756101521677,"score_gpt":0.3123748413517063,"score_spread":0.2744572803364896,"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."}}