{"id":"W3017139916","doi":"10.14740/jmc3335","title":"Unexpected Genotype in a Non-Transfusion Dependent Thalassemia Family","year":2020,"lang":"en","type":"article","venue":"Journal of Medical Cases","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Thalassemia; Genotype; Blood transfusion; Anemia; Phenotype; Hemoglobin; Mutation; Gene; Pediatrics; Gastroenterology; Internal medicine; Genetics; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"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":[0.0001999031,0.001292365,0.0004628351,0.001352071,0.001495405,0.0005018294,0.0006288541,0.001455154,0.004221794],"category_scores_gemma":[0.001900653,0.0004976625,0.0004086336,0.0006296659,0.0008146527,0.0005324802,0.00070509,0.001100627,0.0007348596],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005235019,"about_ca_system_score_gemma":0.0003919917,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001858992,"about_ca_topic_score_gemma":0.001459382,"domain_scores_codex":[0.9997001,0.00004258578,0.00002548574,0.0001005641,0.00005088884,0.0000804502],"domain_scores_gemma":[0.9993518,0.0002173259,0.0001230166,0.00004538984,0.00003882358,0.000223572],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00004095161,0.00003571833,0.01458539,0.0000202035,0.000006887019,0.9806486,0.0003829902,0.00006326116,0.002134409,0.0002900734,0.0003749982,0.00141655],"study_design_scores_gemma":[0.000005169167,0.00004850227,0.009804422,0.00001018604,0.00001037773,0.9885147,0.00011639,0.0001140065,0.0005124735,0.0001791999,0.0006762077,0.000008372321],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9899009,0.001190183,0.001431226,0.001449485,0.0001555968,0.00005581509,0.0003162454,0.00008975637,0.005410837],"genre_scores_gemma":[0.9968131,0.0004924989,0.0006359286,0.0003184464,0.0001642697,0.00001394304,0.00007938445,0.00002173326,0.001460671],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004221794,"threshold_uncertainty_score":0.01412332,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01824673639266684,"score_gpt":0.2798626079317526,"score_spread":0.2616158715390858,"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."}}