{"id":"W4220714429","doi":"10.1002/jmd2.12271","title":"Genotype–phenotype correlations in <scp>CPT1A</scp> deficiency detected by newborn screening in Pacific populations","year":2022,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Asymptomatic; Internal medicine; Phenotype; Newborn screening; Medicine; Genotype; Carnitine; Population; Biology; Endocrinology; Genetics; Pediatrics; Gene; Environmental health","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003806257,0.000464447,0.0002506705,0.0009495943,0.0007099349,0.0004377338,0.0002661516,0.0003900022,0.002621513],"category_scores_gemma":[0.002314283,0.0002242525,0.0001570349,0.0005904585,0.0005259424,0.0001980044,0.0005496814,0.0003775049,0.0001988376],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002460876,"about_ca_system_score_gemma":0.0002001751,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01614802,"about_ca_topic_score_gemma":0.01104613,"domain_scores_codex":[0.9996706,0.00006567049,0.00003613843,0.00009285911,0.00007996021,0.00005483669],"domain_scores_gemma":[0.999298,0.0002411968,0.0001698131,0.00003929784,0.000106542,0.0001452778],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001749117,0.00005307753,0.9822089,0.0000159466,0.00003413514,0.00408899,0.001131695,0.00006017076,0.008640762,0.0000470667,0.0001085215,0.003435886],"study_design_scores_gemma":[0.000005260581,0.0001438646,0.9919119,0.00001005567,0.00002796737,0.005809592,0.0006732159,0.0002959167,0.0008537222,0.00003380388,0.000227963,0.000006794821],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99945,0.00003448907,0.00006804128,0.00001151667,0.000001597495,0.000005395256,0.000051886,0.000002908242,0.0003741248],"genre_scores_gemma":[0.9996527,0.00002942841,0.0001161592,0.000009324236,0.000001793755,0.000005005795,0.0000633924,0.000002864494,0.0001192931],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01614802,"threshold_uncertainty_score":0.03210807,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01117383398792308,"score_gpt":0.2354977253674264,"score_spread":0.2243238913795033,"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."}}