{"id":"W2071301127","doi":"10.1016/j.ymgme.2010.07.013","title":"Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut","year":2010,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":68,"is_retracted":false,"has_abstract":false,"ca_institutions":"Yukon Health and Social Services; Government of Northwest Territories; Government of Nunavut; University of Manitoba; University of Alberta Hospital; Alberta Hospital Edmonton; University of British Columbia","funders":"Canadian Institutes of Health Research; Michael Smith Health Research BC","keywords":"Newborn screening; Population; Ethnic group; Carnitine; Demography; Carnitine O-palmitoyltransferase; Allele; Medicine; Pediatrics; Internal medicine; Environmental health; Biology; Gene; Genetics; Beta oxidation; Political science","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002835873,0.0003668611,0.0003671899,0.0001511471,0.00006462108,0.00006981166,0.0002506349,0.0002982299,0.00002206929],"category_scores_gemma":[0.0000851217,0.0003796422,0.00006990984,0.0001885666,0.0002358852,0.000008097562,0.0001586522,0.0003240778,0.000001977672],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002224909,"about_ca_system_score_gemma":0.0001116993,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001172867,"about_ca_topic_score_gemma":0.01686796,"domain_scores_codex":[0.9979866,0.0001167814,0.0004198232,0.0007514177,0.000218334,0.0005070494],"domain_scores_gemma":[0.9990588,0.00001485666,0.00006830601,0.0005233476,0.00008611466,0.0002485959],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00008457708,0.000195203,0.1952516,0.0001149521,0.00004541057,0.00006269526,0.000684345,0.0001024639,0.7797996,0.000749382,0.00003129259,0.02287851],"study_design_scores_gemma":[0.003057255,0.0001432431,0.8255798,0.00003654991,0.0001098913,0.00005268123,0.0002216031,0.000148827,0.08513205,0.0007837331,0.08394157,0.0007928537],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.966866,0.03150443,0.0002352635,0.0001488293,0.0004244366,0.0004282389,0.0001318082,0.000008981757,0.0002520423],"genre_scores_gemma":[0.9814849,0.01564102,0.001961627,0.0003329462,0.00023582,0.00006706814,0.0001446246,0.00004916548,0.00008286147],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6946675,"threshold_uncertainty_score":0.9998655,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00329035665569551,"score_gpt":0.213102514150548,"score_spread":0.2098121574948525,"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."}}