{"id":"W2174778765","doi":"10.1089/109065701753617444","title":"A Primer for Predicting Risk of Disease in <i>HFE</i> -Linked Hemochromatosis","year":2001,"lang":"en","type":"article","venue":"Genetic Testing","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"","keywords":"Hemochromatosis; Hereditary hemochromatosis; Penetrance; Proband; Genetics; Genotype; Allele; Genetic counseling; Population; Genetic testing; Compound heterozygosity; Heterozygote advantage; Medicine; Asymptomatic; Mutation; Biology; Internal medicine; Gene; Phenotype; Environmental health","routes":{"ca_aff":true,"ca_fund":false,"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":[0.000205345,0.0001147761,0.0002387729,0.00009128676,0.00005153735,0.000005607641,0.00006376936,0.00004261681,0.00001848813],"category_scores_gemma":[0.002257517,0.0001080473,0.00006872939,0.0003016698,0.00004336488,0.00002541047,0.00002926034,0.00008320824,0.000003017073],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001211394,"about_ca_system_score_gemma":0.0001125838,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002195734,"about_ca_topic_score_gemma":0.000008838661,"domain_scores_codex":[0.9989635,0.00003039029,0.0003501901,0.0002249851,0.0001565215,0.0002744577],"domain_scores_gemma":[0.9991534,0.0002650365,0.0001431617,0.0002279155,0.00007877714,0.0001317342],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000126733,0.0001075747,0.9703472,0.0002234824,0.000007471103,0.000008082583,0.0001923387,0.0004558334,0.005232034,0.000005543018,0.00004640458,0.02324732],"study_design_scores_gemma":[0.002558073,0.000110685,0.9870341,0.0001909796,0.0002481476,0.000009736873,0.0001226148,0.00855402,0.0005679476,0.0002552829,0.0002365481,0.0001119108],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949756,0.001720822,0.001830238,0.0001099603,0.00007568162,0.0005758274,0.00001477923,0.00005505054,0.0006420585],"genre_scores_gemma":[0.9525753,0.00006806903,0.04696558,0.0001160465,0.0001171637,0.00004831722,0.000008353432,0.00002496164,0.00007622523],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04513534,"threshold_uncertainty_score":0.4406041,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02082149682298788,"score_gpt":0.2625133267360754,"score_spread":0.2416918299130875,"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."}}