{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000408619,0.0006750504,0.0003544235,0.002083219,0.002724652,0.0004825295,0.0009950583,0.0005251875,0.002719824],"category_scores_gemma":[0.001546978,0.0003682574,0.0002409133,0.002028933,0.001060329,0.0002290313,0.0004912948,0.000468156,0.0001961119],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00352341,"about_ca_system_score_gemma":0.002932706,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8738508,"about_ca_topic_score_gemma":0.8848143,"domain_scores_codex":[0.9995224,0.00008657142,0.00002730156,0.00008906279,0.0001305511,0.0001440345],"domain_scores_gemma":[0.9990667,0.0002213399,0.0001300535,0.00003320094,0.000307141,0.0002416179],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001308457,0.0004851555,0.9691094,0.00003976655,0.00008900343,0.004889492,0.004126853,0.0001286322,0.01138229,0.0002813433,0.0006692787,0.007490417],"study_design_scores_gemma":[0.00004466746,0.0002259273,0.9946762,0.00001037166,0.00008028963,0.00171009,0.001860057,0.0002379266,0.0007080389,0.00003674925,0.0003950785,0.00001449955],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992386,0.00006117234,0.00004584932,0.00003943847,0.000002916602,0.00001119653,0.0001382092,0.000003170928,0.0004596084],"genre_scores_gemma":[0.9986879,0.0001373053,0.0001920424,0.00004155411,0.000004379441,0.000008658279,0.000125044,0.000004386296,0.0007987178],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1261492,"threshold_uncertainty_score":0.2537842,"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."}}