{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004235693,0.0001968389,0.0003205732,0.0005850611,0.00007387926,0.00008535645,0.0005567207,0.00007181953,0.0001722915],"category_scores_gemma":[0.0007378017,0.0001701353,0.0003729302,0.0004113823,0.00008553032,0.0002027404,0.0002431066,0.0005204612,0.0001253367],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004229185,"about_ca_system_score_gemma":0.0002027488,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001786576,"about_ca_topic_score_gemma":0.00008114248,"domain_scores_codex":[0.996893,0.00008322526,0.0006425678,0.0003117126,0.001722327,0.0003471932],"domain_scores_gemma":[0.99849,0.0001878197,0.0002927441,0.0002319857,0.0005689769,0.0002284667],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.01670353,0.0002170657,0.008477071,0.00002425661,0.001926402,0.005248752,0.0005570636,0.0006622794,0.01110847,0.00006446378,0.01134423,0.9436664],"study_design_scores_gemma":[0.02082201,0.00377572,0.1751248,0.001132309,0.000256051,0.001620547,0.001670062,0.0047091,0.003114315,0.0002485979,0.7870349,0.0004916004],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.807081,0.0008622615,0.1787599,0.009224223,0.001146712,0.0006418028,0.0002199977,0.0000999164,0.001964157],"genre_scores_gemma":[0.9108273,0.0004820406,0.08395734,0.0005055963,0.002148218,0.00000844819,0.0003302921,0.00008406959,0.001656749],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9431748,"threshold_uncertainty_score":0.6937916,"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."}}