{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002386213,0.0004683046,0.0002996629,0.0003780262,0.0003231766,0.0002703044,0.000152059,0.0005293402,0.002410598],"category_scores_gemma":[0.000596919,0.0001145799,0.000235586,0.0002862577,0.0002913356,0.0001135518,0.0002436237,0.0002395552,0.0002123898],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000879119,"about_ca_system_score_gemma":0.00005392679,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005798761,"about_ca_topic_score_gemma":0.001268151,"domain_scores_codex":[0.9998727,0.00002091079,0.00001378375,0.00005662684,0.00001813194,0.00001777126],"domain_scores_gemma":[0.9997782,0.00008914447,0.00006858044,0.00001908856,0.00001327961,0.00003175329],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00211573,0.0001100432,0.8204257,0.0001134967,0.0003252616,0.01442071,0.0008190282,0.0005253466,0.1367345,0.0002135817,0.0009950824,0.0232015],"study_design_scores_gemma":[0.00009499307,0.0004175834,0.9655446,0.00002989326,0.0001436437,0.02052581,0.0003643669,0.0007817722,0.01061264,0.0002204247,0.001249411,0.00001487461],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990932,0.0001462277,0.0003488451,0.00003889587,0.000004045986,0.00000529517,0.000191227,0.000008879429,0.0001634002],"genre_scores_gemma":[0.9991707,0.00004998695,0.0003597456,0.00005579096,0.000008934397,0.000004505493,0.0001605995,0.000003927985,0.00018581],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002410598,"threshold_uncertainty_score":0.00806421,"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."}}