{"id":"W4379348102","doi":"10.1017/cjn.2023.174","title":"P.072 Alberta Spinal Muscular Atrophy Newborn Screening (SMA-NBS) – 2022 results","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":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Hospital Edmonton; Calgary Laboratory Services","funders":"","keywords":"SMN1; Spinal muscular atrophy; SMA*; Medicine; Newborn screening; Exon; Asymptomatic; Pediatrics; Internal medicine; Disease; Biology; Gene; Genetics","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":["metaepi_narrow","sts"],"consensus_categories":["sts"],"category_scores_codex":[0.005695795,0.0004225552,0.0007043763,0.002020313,0.003064562,0.0006153677,0.00202305,0.0002460833,0.0002262086],"category_scores_gemma":[0.005576815,0.0002932135,0.0005679853,0.00384148,0.006048584,0.0006082253,0.0001632045,0.001899424,0.00003088079],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001521172,"about_ca_system_score_gemma":0.004442434,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003370821,"about_ca_topic_score_gemma":0.0453755,"domain_scores_codex":[0.9929981,0.001021185,0.001148607,0.0008540673,0.001750359,0.002227632],"domain_scores_gemma":[0.9945005,0.0005613802,0.0006102403,0.0002697059,0.000618771,0.003439382],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001649916,0.0001296486,0.8160471,0.00005391736,0.0001395043,0.06783091,0.0007534042,0.007831172,0.001221798,0.000790684,0.01146783,0.09208414],"study_design_scores_gemma":[0.00244609,0.1598196,0.6429749,0.0001901057,0.0001796871,0.06594858,0.0008094996,0.005577351,0.0002397279,0.005223391,0.1158224,0.0007687038],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9772555,0.001549641,0.00008579443,0.01618303,0.0006460969,0.0003127238,0.00001133982,0.00003498296,0.003920838],"genre_scores_gemma":[0.99186,0.001251593,0.002568047,0.003529473,0.0004762539,0.000005036282,0.000001559207,0.00002675004,0.000281264],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1730722,"threshold_uncertainty_score":0.999952,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04962191216798929,"score_gpt":0.3135937808903955,"score_spread":0.2639718687224062,"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."}}