{"id":"W3093236990","doi":"10.1017/cjn.2020.229","title":"Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations","year":2020,"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":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; McMaster Children's Hospital; Western University; Children's Hospital of Western Ontario; SickKids Foundation; University of Toronto; Newborn Screening Ontario; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"AveXis; Biogen","keywords":"SMA*; SMN1; Spinal muscular atrophy; Medicine; Neuromuscular disease; Physical therapy; Pediatrics; Physical medicine and rehabilitation; Disease; Internal medicine","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":[0.001976415,0.0002536672,0.0004717965,0.0004735313,0.002388566,0.0004615703,0.0007921374,0.000120253,0.0001080957],"category_scores_gemma":[0.00491269,0.0001816913,0.0002598408,0.0009622877,0.002884454,0.0004357163,0.0000706483,0.00107248,0.000001057444],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000116314,"about_ca_system_score_gemma":0.004364958,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005484965,"about_ca_topic_score_gemma":0.1145761,"domain_scores_codex":[0.996813,0.0003541203,0.0006433193,0.0005238999,0.0006004302,0.001065215],"domain_scores_gemma":[0.9958039,0.0004232471,0.0003721255,0.00009719862,0.0005726349,0.002730901],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003903017,0.00002163274,0.9253681,0.0000271072,0.00003828573,0.0024652,0.0005181947,0.0007295604,0.0002349548,0.0001519907,0.0008351794,0.06921946],"study_design_scores_gemma":[0.003235919,0.2947756,0.5673663,0.0001868866,0.0002997831,0.03928674,0.0008950265,0.009077597,0.0001512723,0.007361173,0.07668059,0.0006831602],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9743628,0.0009181407,0.001017419,0.02237728,0.0003087838,0.0003352022,0.000006867665,0.00001349412,0.0006600259],"genre_scores_gemma":[0.9400411,0.0001513602,0.0523845,0.007099876,0.0002749893,0.000004714346,4.612009e-7,0.00001381348,0.00002922591],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3580019,"threshold_uncertainty_score":0.9998291,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1272294793030602,"score_gpt":0.3289332631279309,"score_spread":0.2017037838248707,"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."}}