{"id":"W4389231924","doi":"10.1182/blood-2023-181834","title":"Regional Genetic Heterogeneity Among Patients with Pyruvate Kinase Deficiency","year":2023,"lang":"en","type":"article","venue":"Blood","topic":"Erythrocyte Function and Pathophysiology","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"","keywords":"Pyruvate kinase deficiency; Medicine; Genotype; Cohort; Missense mutation; Pyruvate kinase; Internal medicine; Genetics; Biology; Mutation; Gene; Glycolysis","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":[0.00003755667,0.0001029924,0.0001431109,0.00008419294,0.00007497137,0.000005096187,0.00004511582,0.00005903646,0.00006784396],"category_scores_gemma":[0.00002047635,0.00007690836,0.00005058259,0.000290976,0.00008442548,0.00002546412,0.00002658149,0.0000895863,0.0002559479],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008743782,"about_ca_system_score_gemma":0.00003766374,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001461506,"about_ca_topic_score_gemma":0.00001424583,"domain_scores_codex":[0.99921,0.00002575643,0.0001228182,0.0002385519,0.0001864592,0.000216385],"domain_scores_gemma":[0.9995242,0.00001997292,0.00004488039,0.0002256499,0.00007713341,0.0001081403],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001066621,0.0004830089,0.9940389,0.00003758368,0.00003275389,0.00007794438,0.0000532248,0.00002076659,0.003848901,0.00001513937,0.0008207327,0.0004643191],"study_design_scores_gemma":[0.002953458,0.000645796,0.9938681,0.00002650072,0.00008006014,0.000009935896,0.00001527946,0.00003178639,0.001534318,0.00002416006,0.000717945,0.00009261934],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988882,0.00005396621,0.00001988412,0.00007503852,0.0001093779,0.0001910301,0.000007147107,0.0001399757,0.000515407],"genre_scores_gemma":[0.998774,0.00003059963,0.000228701,0.0004188275,0.0000879505,0.00002058542,0.0001036483,0.00001760442,0.0003180934],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002846796,"threshold_uncertainty_score":0.3289778,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01858600856687541,"score_gpt":0.2356623461929975,"score_spread":0.2170763376261221,"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."}}