{"id":"W2401849032","doi":"10.1038/gim.2016.55","title":"Is it Fabry disease?","year":2016,"lang":"en","type":"review","venue":"Genetics in Medicine","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":99,"is_retracted":false,"has_abstract":false,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"","keywords":"Globotriaosylceramide; Fabry disease; Alpha-galactosidase; Disease; Enzyme replacement therapy; Medicine; Biology; Internal medicine","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":["insufficient_payload"],"category_scores_codex":[0.0005649331,0.0005485526,0.002393002,0.0006896439,0.00004431687,0.000009416312,0.0005199807,0.0004117476,0.005287178],"category_scores_gemma":[0.0008629459,0.000330519,0.0003430666,0.0007066645,0.0004352148,0.00001899379,0.000237895,0.0007949616,0.001158401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003762385,"about_ca_system_score_gemma":0.0008822157,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001806172,"about_ca_topic_score_gemma":0.00000659946,"domain_scores_codex":[0.9961477,0.000174522,0.0009718311,0.000789851,0.001224177,0.0006919113],"domain_scores_gemma":[0.9974448,0.0002943886,0.0001926165,0.001253955,0.0001529477,0.0006613082],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00002698548,0.00007696096,0.0002892237,0.01878285,0.0001192249,0.000594708,0.0001072999,2.419e-8,6.994753e-7,0.00003148964,0.05352573,0.9264448],"study_design_scores_gemma":[0.001229981,0.0002041264,0.0001351701,0.06254237,0.0006265067,0.00006126823,0.00003530051,0.00000597679,3.847094e-7,0.0002111148,0.9346592,0.0002885719],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.000006879106,0.9830768,0.0001094487,0.004947721,0.0004031452,0.001510716,0.00005199491,0.00003146814,0.0098618],"genre_scores_gemma":[0.00002183453,0.9815665,0.000118226,0.001399087,0.001296699,0.0001690551,0.0001393813,0.0001272672,0.01516195],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9261562,"threshold_uncertainty_score":0.9999147,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1582595687057428,"score_gpt":0.4647422256490444,"score_spread":0.3064826569433016,"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."}}