{"id":"W2535960806","doi":"10.1111/ejh.12820","title":"Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel","year":2016,"lang":"en","type":"article","venue":"European Journal Of Haematology","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; McMaster University","funders":"Marine Biological Laboratory","keywords":"Hemochromatosis; DNA sequencing; Medicine; Gene; Genetics; Computational biology; Biology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005309855,0.0003394783,0.0002656595,0.0008393071,0.0004321152,0.0003584546,0.0002182656,0.0004842067,0.002206696],"category_scores_gemma":[0.0017148,0.0001095681,0.0001554766,0.0003774342,0.0002886507,0.0002682797,0.0002159282,0.0004052476,0.0002894654],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003886207,"about_ca_system_score_gemma":0.0003890842,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001937454,"about_ca_topic_score_gemma":0.001786363,"domain_scores_codex":[0.999575,0.00009654675,0.00004592897,0.00007872179,0.0001347802,0.00006912913],"domain_scores_gemma":[0.9990054,0.0003499093,0.0001271147,0.00002280672,0.0002507287,0.0002441999],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005751906,0.0001537961,0.858606,0.00008869598,0.00004307126,0.09194864,0.0005319217,0.0004130094,0.02661683,0.0002462389,0.002625574,0.01815094],"study_design_scores_gemma":[0.00007367576,0.000985079,0.7671728,0.0001156234,0.0001068139,0.211498,0.0008271309,0.003577067,0.01087782,0.0003880413,0.004348721,0.0000293214],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933423,0.0005297969,0.000962084,0.0005182951,0.00002187905,0.00006799804,0.0002582652,0.00003475876,0.004264534],"genre_scores_gemma":[0.9983247,0.0001826642,0.0007545874,0.0002361208,0.00001739689,0.00001041903,0.0001775722,0.000005747865,0.0002907018],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002206696,"threshold_uncertainty_score":0.007382095,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2413558691220345,"score_gpt":0.3652527442620009,"score_spread":0.1238968751399664,"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."}}