{"id":"W1980569671","doi":"10.1111/j.1399-0004.2006.00727.x","title":"Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost‐effectiveness of testing algorithms","year":2006,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Hospital; Université Laval; Institut National de Santé Publique du Québec; Hôpital Saint-François d'Assise","funders":"Canadian Institutes of Health Research; Institute of Genetics; Heart and Stroke Foundation of Canada","keywords":"Penetrance; Hereditary hemochromatosis; Hemochromatosis; Population; Medicine; Genetic testing; Transferrin saturation; Genetics; Phenotype; Biology; Internal medicine; Environmental health; Iron deficiency; Anemia","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009095259,0.000129327,0.0004590848,0.00004605347,0.00002591564,0.000003443971,0.00006324829,0.0001200764,0.000006802122],"category_scores_gemma":[0.001164906,0.0001093405,0.00008687335,0.0001621471,0.0002704158,0.00002093735,0.00002587781,0.0001313777,0.0000016878],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004737999,"about_ca_system_score_gemma":0.00003408388,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002646159,"about_ca_topic_score_gemma":7.853889e-7,"domain_scores_codex":[0.9985676,0.000292249,0.0005076075,0.0002580176,0.0002360367,0.0001384286],"domain_scores_gemma":[0.9968135,0.002570886,0.0001809198,0.0002148354,0.000148895,0.00007096344],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007925115,0.0003258347,0.8257675,0.002895201,0.00002324076,0.00001759033,0.00001425162,0.0007278094,0.006346435,0.00001803068,0.0000608981,0.1630107],"study_design_scores_gemma":[0.003277174,0.002644654,0.9362933,0.0005441731,0.0002257819,0.00001558791,0.000009047185,0.00199517,0.05481039,0.00008223663,0.00001122592,0.00009125666],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929101,0.00308267,0.00274351,0.00001636308,0.0001517364,0.0005809256,0.00001631248,0.00001598381,0.0004824103],"genre_scores_gemma":[0.990753,0.0001955362,0.008822747,0.0000357125,0.0001283784,0.00001146677,0.00001494673,0.00001624133,0.00002194738],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1629195,"threshold_uncertainty_score":0.4458776,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04459286789266107,"score_gpt":0.3617978393260234,"score_spread":0.3172049714333623,"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."}}