{"id":"W4377969128","doi":"10.1016/j.clinbiochem.2023.110589","title":"Hemoglobin variant in disguise","year":2023,"lang":"en","type":"article","venue":"Clinical Biochemistry","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; University Health Network; Stollery Children's Hospital; University of Alberta Hospital; Alberta Hospital Edmonton; University of Alberta","funders":"","keywords":"Hemoglobinopathy; Hemoglobin variants; Capillary electrophoresis; Compound heterozygosity; Hemoglobin; Phenotype; Beta thalassemia; Genetics; Molecular biology; Biology; Medicine; Thalassemia; Gene; Internal medicine; Hemolytic anemia","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":[0.0005221754,0.0001287167,0.0003209638,0.00004791636,0.00002978886,0.000009093095,0.0001112304,0.000408321,0.0001786125],"category_scores_gemma":[0.001175886,0.00010605,0.0001861679,0.0005709127,0.0001571485,0.0000150444,0.000091195,0.0005018159,0.0006772798],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003702465,"about_ca_system_score_gemma":0.0001597022,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001060885,"about_ca_topic_score_gemma":8.621054e-7,"domain_scores_codex":[0.9985339,0.0000266627,0.0005573547,0.000394461,0.000159272,0.0003283529],"domain_scores_gemma":[0.9990937,0.000157084,0.0000537371,0.0004153994,0.00003291349,0.0002472411],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001461062,0.003994307,0.4924735,0.001383253,0.0003778822,0.01716032,0.0003050889,0.00004250768,0.05532809,0.0004113466,0.3132095,0.1138532],"study_design_scores_gemma":[0.04517702,0.001579696,0.6097897,0.003461703,0.0006218738,0.001545249,0.004131451,0.009370516,0.0777107,0.004551152,0.2390869,0.00297405],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9781149,0.0002958687,0.000005181254,0.004569328,0.0003147319,0.0001484455,0.000008806556,0.0001878458,0.01635487],"genre_scores_gemma":[0.9927959,0.0007213131,0.0001218082,0.0008951851,0.0002166244,0.00001174021,0.00009221701,0.00001996099,0.00512524],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1173162,"threshold_uncertainty_score":0.8705287,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02836125457284683,"score_gpt":0.3507342102487056,"score_spread":0.3223729556758588,"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."}}