{"id":"W2032542021","doi":"10.1002/hep.27711","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":"Hepatology","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":82,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre","funders":"Chao Family Comprehensive Cancer Center; National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Health and Medical Research Council; Medical Research Council; University of California, Irvine; National Cancer Institute; National Institutes of Health; U.S. Department of Veterans Affairs","keywords":"Hepcidin; Hemochromatosis; Exome sequencing; Gene knockdown; Hereditary hemochromatosis; Phenotype; Biology; Genetics; Heterozygote advantage; Gene; Single-nucleotide polymorphism; Compound heterozygosity; Internal medicine; Medicine; Endocrinology; Genotype; Anemia","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":[],"consensus_categories":[],"category_scores_codex":[0.0003233416,0.0002685183,0.0006545236,0.0002188406,0.00006035221,0.00002259863,0.0001189785,0.0002070487,0.0001211832],"category_scores_gemma":[0.0002295479,0.0001974754,0.00003941037,0.000381373,0.0001764408,0.0001721623,0.00005059927,0.0002820923,0.00006026468],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003024942,"about_ca_system_score_gemma":0.000710286,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002530238,"about_ca_topic_score_gemma":0.005171314,"domain_scores_codex":[0.9981704,0.0001748619,0.0003097541,0.0004317445,0.0003662308,0.0005470555],"domain_scores_gemma":[0.9990673,0.00007708967,0.0001522625,0.0003582505,0.0001490185,0.0001960967],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003643902,0.0005690628,0.9601578,0.0002955855,0.0002179007,0.01144875,0.0118051,0.0003353955,0.002110423,0.001593058,0.006395896,0.001427145],"study_design_scores_gemma":[0.1348543,0.009269222,0.7103119,0.002536136,0.004268824,0.02911115,0.05608958,0.02549963,0.002409714,0.008662685,0.0106742,0.006312694],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9849364,0.00120336,0.0001787537,0.0003703836,0.0001345862,0.0004021166,0.00001140094,0.0001167752,0.01264623],"genre_scores_gemma":[0.9967545,0.00006206054,0.0005031156,0.0005674736,0.00005085079,0.00004077159,0.00006644233,0.00004388799,0.001910916],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2498459,"threshold_uncertainty_score":0.8052815,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03406976323171437,"score_gpt":0.2455851043849447,"score_spread":0.2115153411532303,"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."}}