{"id":"W2008554517","doi":"10.1006/mgme.2001.3149","title":"Hepatic Carnitine Palmitoyl Transferase 1 (CPT1 A) Deficiency in North American Hutterites (Canadian and American): Evidence for a Founder Effect and Results of a Pilot Study on a DNA-Based Newborn Screening Program","year":2001,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Manitoba","funders":"","keywords":"Founder effect; Newborn screening; Carnitine; Haplotype; Mutation; Genetic testing; Medicine; Genetics; Pediatrics; Biology; Internal medicine; Gene; Genotype","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0004064119,0.0003414067,0.0005111755,0.0002340164,0.00009836729,0.00006141608,0.0001505798,0.00004203214,5.730845e-7],"category_scores_gemma":[0.0002231747,0.0003224281,0.00006435853,0.0004238987,0.0003524368,0.000005080082,0.0000463067,0.0000941406,1.300022e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000295572,"about_ca_system_score_gemma":0.0001002073,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006413643,"about_ca_topic_score_gemma":0.06226075,"domain_scores_codex":[0.9979193,0.0002452251,0.0004383492,0.0007155187,0.00019934,0.0004822495],"domain_scores_gemma":[0.9990075,0.00008457046,0.0001436469,0.0003864744,0.00009137883,0.0002864684],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.002595618,0.0008614909,0.4317144,0.0001454726,0.0001465765,0.00004318825,0.0005125247,0.0004804482,0.1303532,0.00001263672,0.00001365972,0.4331207],"study_design_scores_gemma":[0.005210296,0.01041245,0.970494,0.00004438828,0.0002608196,0.000008948688,0.0002671147,0.0007882323,0.008495444,0.00001450639,0.003547282,0.0004565203],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9880123,0.006714768,0.003106472,0.00018278,0.00003283836,0.001836922,0.00007978307,0.000008637304,0.00002550527],"genre_scores_gemma":[0.9916326,0.001522402,0.006080472,0.000346532,0.00003673237,0.0002778164,0.00005538369,0.0000421903,0.000005863009],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5387796,"threshold_uncertainty_score":0.9999228,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02227406938926485,"score_gpt":0.2926470119542209,"score_spread":0.2703729425649561,"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."}}