{"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":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":["sts"],"category_scores_codex":[0.007298885,0.0002767828,0.0005517174,0.0006121665,0.001734771,0.0003401121,0.0009648196,0.000152708,0.00005891093],"category_scores_gemma":[0.003694391,0.0001968143,0.000173936,0.002427966,0.00488766,0.0003844653,0.0001246694,0.001370879,0.000001317855],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002254035,"about_ca_system_score_gemma":0.006363796,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.1004415,"about_ca_topic_score_gemma":0.8475657,"domain_scores_codex":[0.9948421,0.000995919,0.0007595888,0.000598794,0.001089722,0.001713845],"domain_scores_gemma":[0.9965243,0.0004483244,0.0002895132,0.0001659061,0.0003385361,0.002233443],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001275379,0.00001868414,0.9481082,0.00001896174,0.00001349342,0.01625364,0.000207068,0.001160731,0.00005567043,0.0001171794,0.0002771647,0.03364167],"study_design_scores_gemma":[0.0006310506,0.02373436,0.9461711,0.00004460056,0.0000250431,0.01707068,0.0006706351,0.002450941,0.00003332119,0.003080316,0.005860545,0.0002273884],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889411,0.0009261213,0.00006257014,0.008822287,0.000350544,0.0002163108,0.00001032103,0.00001308825,0.0006576867],"genre_scores_gemma":[0.9951888,0.0005074962,0.001646946,0.002487992,0.0001366177,0.00000298754,4.248617e-7,0.00001194649,0.00001681764],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7471241,"threshold_uncertainty_score":0.9995648,"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."}}