{"id":"W4392589463","doi":"10.1016/j.gimo.2024.101599","title":"P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Interpretation (philosophy); Disease; Newborn screening; Genetics; Medicine; Pediatrics; Psychology; Biology; Computational biology; Pathology; Philosophy; Linguistics","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02337449,0.0006110446,0.0007953429,0.005133811,0.001001921,0.002803095,0.002109933,0.002569918,0.002095014],"category_scores_gemma":[0.1316779,0.0004502033,0.001131867,0.00236484,0.00164166,0.002607443,0.001495775,0.002083024,0.001613179],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00119296,"about_ca_system_score_gemma":0.0028181,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004224143,"about_ca_topic_score_gemma":0.004395223,"domain_scores_codex":[0.9773317,0.006852015,0.007902059,0.002603523,0.004521281,0.0007894277],"domain_scores_gemma":[0.8934393,0.07658198,0.005910608,0.003258816,0.01931239,0.001496942],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001112662,0.00009967545,0.1653119,0.01017087,0.0007140716,0.1437002,0.004507693,0.001943634,0.009855526,0.008496412,0.09508984,0.5589976],"study_design_scores_gemma":[0.0001583317,0.0003932902,0.1011513,0.02118,0.001846111,0.320164,0.006032115,0.003346587,0.02190811,0.01869311,0.504811,0.0003160007],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.2845544,0.405009,0.06107013,0.1411176,0.01555426,0.000779263,0.01906965,0.001680856,0.0711648],"genre_scores_gemma":[0.8304099,0.07313959,0.03320109,0.04670397,0.006143008,0.0002402508,0.007335907,0.0006720507,0.00215415],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.02337449,"threshold_uncertainty_score":0.1236175,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09488508503861767,"score_gpt":0.4563844041636158,"score_spread":0.3614993191249981,"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."}}