{"id":"W4385344371","doi":"10.3390/ijns9030042","title":"Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project","year":2023,"lang":"en","type":"article","venue":"International Journal of Neonatal Screening","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; University of Calgary; Alberta Hospital Edmonton; University of Alberta","funders":"Muscular Dystrophy Canada","keywords":"SMN1; Spinal muscular atrophy; SMA*; Multiplex ligation-dependent probe amplification; Newborn screening; Medicine; Multiplex; Exon; Carrier testing; Pediatrics; Biology; Prenatal diagnosis; Disease; Internal medicine; Bioinformatics; Gene; Genetics; Fetus; Pregnancy","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"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":[0.003965537,0.0008089049,0.0005113084,0.001386643,0.001093122,0.0009346406,0.001315356,0.0006897729,0.001326582],"category_scores_gemma":[0.003358978,0.0003593166,0.0005522194,0.001179298,0.0003590264,0.0002745636,0.001032077,0.0004443069,0.0004935445],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.008665948,"about_ca_system_score_gemma":0.01323386,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.7264065,"about_ca_topic_score_gemma":0.7072321,"domain_scores_codex":[0.9976858,0.0006800229,0.00008805686,0.0002560736,0.000907818,0.0003822551],"domain_scores_gemma":[0.9968848,0.000310633,0.0002587086,0.0001760243,0.001490604,0.0008792104],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005102405,0.001978764,0.8949845,0.0002542434,0.0004246026,0.002286719,0.001396202,0.001607417,0.005681531,0.0005491853,0.02010167,0.06563268],"study_design_scores_gemma":[0.0003634166,0.001343388,0.9909928,0.00004974401,0.0001356064,0.0004132559,0.0003575421,0.0004392528,0.0006578467,0.00005117696,0.005174148,0.00002188796],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9568042,0.001305518,0.001146313,0.0008951148,0.00007382841,0.001776926,0.02887277,0.0002774342,0.008847961],"genre_scores_gemma":[0.9355858,0.001865358,0.005634498,0.0009760832,0.00004534421,0.001216116,0.04747218,0.00008664824,0.007117832],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2735935,"threshold_uncertainty_score":0.5504094,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05724743369685995,"score_gpt":0.3484957437424279,"score_spread":0.2912483100455679,"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."}}