{"id":"W2765805902","doi":"10.1182/blood.v128.22.2432.2432","title":"Genotype/Phenotype Correlations in 103 Children from 87 Families with Hereditary Spherocytosis","year":2016,"lang":"en","type":"article","venue":"Blood","topic":"Erythrocyte Function and Pathophysiology","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute for Clinical Evaluative Sciences; SickKids Foundation; St. Michael's Hospital; University of Toronto; Hospital for Sick Children","funders":"","keywords":"Hereditary spherocytosis; Ankyrin; Sanger sequencing; Genetics; Spherocytosis; Spectrin; Genetic testing; Band 3; Penetrance; Medicine; Genetic counseling; Genotype; Phenotype; Biology; Pediatrics; Mutation; Immunology; Gene; Splenectomy; Membrane protein","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":[0.0004245205,0.0006978562,0.0005745796,0.001464314,0.0009201904,0.0006042148,0.0002912567,0.0004763467,0.001716589],"category_scores_gemma":[0.002530549,0.0003910031,0.0003113482,0.00130515,0.000505799,0.000233639,0.0004653947,0.0003359588,0.0002908876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003993163,"about_ca_system_score_gemma":0.0002880001,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004773645,"about_ca_topic_score_gemma":0.004528312,"domain_scores_codex":[0.9991105,0.0001587832,0.000130162,0.000193772,0.0002739282,0.0001327821],"domain_scores_gemma":[0.9988484,0.0004516191,0.0002803544,0.00006283348,0.0001841074,0.0001726543],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009821184,0.00006296818,0.9810448,0.00002038496,0.00003824955,0.01177659,0.001029407,0.0001526464,0.001900824,0.00002645807,0.0002135263,0.003635929],"study_design_scores_gemma":[0.00001451197,0.0002291341,0.9706749,0.00001548127,0.00005386752,0.0265195,0.0006844915,0.0001946541,0.0008939733,0.00003441785,0.0006721779,0.00001296884],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992428,0.000132804,0.0000995213,0.00001335646,0.000002917878,0.000008986273,0.0002215826,0.000008022424,0.0002700432],"genre_scores_gemma":[0.9991879,0.0001117091,0.0002021358,0.00001917935,0.000004736451,0.00001235567,0.0003561288,0.000007195352,0.00009858352],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004773645,"threshold_uncertainty_score":0.009491742,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009304149994788822,"score_gpt":0.2092584255969333,"score_spread":0.1999542756021445,"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."}}