{"id":"W2518514057","doi":"10.1016/j.jacc.2016.05.090","title":"Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics","year":2016,"lang":"en","type":"article","venue":"Journal of the American College of Cardiology","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":65,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University; University Hospital Foundation","funders":"","keywords":"Medicine; Fabry disease; Proband; Internal medicine; Genetic testing; Nephrology; Neurology; Disease; Newborn screening; Gastroenterology; Pathology; Pediatrics; Mutation; Genetics","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":[0.0004274476,0.001272749,0.0004545552,0.003080557,0.001787301,0.001067295,0.0008480718,0.00174453,0.00481785],"category_scores_gemma":[0.004575823,0.0003965398,0.0005185876,0.001211793,0.0007335994,0.0005236728,0.0007629625,0.0006714439,0.0004624413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000678018,"about_ca_system_score_gemma":0.0008188238,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01097464,"about_ca_topic_score_gemma":0.008526185,"domain_scores_codex":[0.9992799,0.0001473609,0.00008952805,0.0001265327,0.0001585467,0.0001980821],"domain_scores_gemma":[0.9986126,0.0006251658,0.0002267556,0.00003579094,0.0001287451,0.0003709432],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004695372,0.0002429854,0.8885644,0.00003222915,0.00003586791,0.09789535,0.0008937817,0.0001839847,0.006721267,0.0001697305,0.0008122859,0.003978602],"study_design_scores_gemma":[0.00007434253,0.000473656,0.8298637,0.0001047446,0.0001756325,0.1607202,0.002400309,0.002297256,0.002508538,0.0004213097,0.0009234743,0.00003681802],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980503,0.0001972377,0.00009327716,0.00031423,0.00001508933,0.00001333533,0.0001348925,0.00001553878,0.001165993],"genre_scores_gemma":[0.9992642,0.0001002209,0.0001939482,0.00008954774,0.00003075806,0.000006128435,0.00009100224,0.000004988326,0.0002192821],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01097464,"threshold_uncertainty_score":0.02182156,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03144623205218267,"score_gpt":0.3195464084988078,"score_spread":0.2881001764466251,"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."}}