{"id":"W2965117608","doi":"","title":"Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload","year":2015,"lang":"en","type":"article","venue":"Queensland's institutional digital repository (The University of Queensland)","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Hepcidin; Hemochromatosis; Exome sequencing; Gene knockdown; Phenotype; Genetics; Biology; Hereditary hemochromatosis; Heterozygote advantage; Gene; Compound heterozygosity; Internal medicine; Medicine; Genotype; Anemia","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":[0.0002103864,0.0003832412,0.000263857,0.0004175259,0.0003111034,0.0002421382,0.0001030406,0.0004178367,0.002018992],"category_scores_gemma":[0.0005034033,0.0001265365,0.0002503385,0.0002350229,0.000212725,0.00009312391,0.000211805,0.0002259054,0.0001710082],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008530696,"about_ca_system_score_gemma":0.00004552837,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006773098,"about_ca_topic_score_gemma":0.001369304,"domain_scores_codex":[0.9998873,0.00002079024,0.00001149007,0.00004655826,0.0000178738,0.00001599625],"domain_scores_gemma":[0.9998477,0.00006263817,0.00003750333,0.00001427819,0.00001051006,0.00002742575],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002112532,0.0001415102,0.733307,0.00009167438,0.0003246723,0.01969304,0.001274169,0.0005261779,0.2190367,0.0002632522,0.0009016462,0.02232769],"study_design_scores_gemma":[0.00008359993,0.0004234718,0.9676995,0.00002167965,0.0001048093,0.01844125,0.0003417747,0.0007507179,0.01093982,0.0001759743,0.0010025,0.00001483856],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992355,0.00008312679,0.0003502021,0.00002699455,0.000003006072,0.000005751134,0.0001384789,0.000006356709,0.0001506835],"genre_scores_gemma":[0.999218,0.00003910848,0.0003084983,0.00004342414,0.000005672264,0.000004557958,0.0001345423,0.000003318085,0.0002428724],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002018992,"threshold_uncertainty_score":0.00675416,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01895705596888904,"score_gpt":0.1978222322174857,"score_spread":0.1788651762485967,"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."}}