{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007232867,0.0005335201,0.0001631267,0.0006909881,0.0005726271,0.0007245578,0.0005638274,0.00052068,0.04234644],"category_scores_gemma":[0.001381147,0.0001385357,0.0002290642,0.0005155774,0.0002985377,0.0001202384,0.000315817,0.0003477602,0.009756874],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003357764,"about_ca_system_score_gemma":0.003113892,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.2381372,"about_ca_topic_score_gemma":0.2621035,"domain_scores_codex":[0.9993031,0.00006174907,0.00002662683,0.00007500553,0.0004305253,0.0001029325],"domain_scores_gemma":[0.9992354,0.00009819907,0.00006570065,0.00003297885,0.0004162575,0.0001514507],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.001135571,0.0004245067,0.3363117,0.0005061765,0.0001585773,0.008666222,0.0003981643,0.0009661502,0.01704183,0.003386933,0.3771361,0.253868],"study_design_scores_gemma":[0.0002109664,0.0005306443,0.5576872,0.0005193099,0.0001432859,0.01273885,0.0005530114,0.002328831,0.01755108,0.0009478162,0.4067469,0.00004215778],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"other","genre_gemma":"empirical","genre_scores_codex":[0.2856772,0.006598168,0.008064808,0.009506382,0.001900336,0.0009858336,0.07063852,0.004390895,0.6122378],"genre_scores_gemma":[0.7133873,0.001684756,0.01143068,0.003208424,0.0002510443,0.000305366,0.03286385,0.000592077,0.2362766],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.7618628,"threshold_uncertainty_score":0.4735022,"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."}}