{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.00003324869,0.0001338447,0.0002354406,0.00007024642,0.0000454529,0.00000381847,0.0000566519,0.0001152696,0.0009828269],"category_scores_gemma":[0.00004170352,0.00008239933,0.00004338296,0.0001655295,0.00007600171,0.00006534407,0.00002361602,0.0001277005,0.0004538444],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002398255,"about_ca_system_score_gemma":0.00008111591,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004243088,"about_ca_topic_score_gemma":0.000546015,"domain_scores_codex":[0.9992146,0.00003719278,0.0001725209,0.0002652507,0.0001234736,0.0001869176],"domain_scores_gemma":[0.9994405,0.0001044662,0.00004769095,0.0002774136,0.00004625218,0.00008369151],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005932197,0.0006231862,0.9651038,0.000009983144,0.0002285643,0.00006287284,0.0003096638,0.000009171855,0.02611473,0.000106457,0.001436683,0.005401641],"study_design_scores_gemma":[0.005863585,0.0004919776,0.9896895,0.0001138254,0.0001753571,0.00004611063,0.0001099534,0.00000532081,0.002397001,0.0001867846,0.0007770152,0.0001435926],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953421,0.0004113187,0.0003091179,0.000417223,0.0001771291,0.0002087868,0.00004715717,0.00008443507,0.003002694],"genre_scores_gemma":[0.9964973,0.0001359922,0.001591624,0.0004727496,0.0004238985,0.00001833364,0.00009701664,0.00002416479,0.0007389086],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02458565,"threshold_uncertainty_score":0.9999304,"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."}}