{"id":"W2616009121","doi":"10.1101/139329","title":"Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy","year":2017,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Alva Foundation; Rare Disease Foundation","keywords":"Epilepsy; Medicine; Exome sequencing; Retrospective cohort study; Pediatrics; Genetic testing; Prospective cohort study; Exome; Epilepsy syndromes; Internal medicine; Psychiatry; Mutation; Genetics","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00286972,0.0004313633,0.0003901724,0.0005399339,0.0001287138,0.0009280996,0.000288183,0.0003539845,0.0021519],"category_scores_gemma":[0.01607689,0.0001019886,0.0004763326,0.0003809829,0.0002205187,0.0005532817,0.0004175941,0.000399361,0.0002034811],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008744511,"about_ca_system_score_gemma":0.0004591159,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001082537,"about_ca_topic_score_gemma":0.001598706,"domain_scores_codex":[0.9979622,0.001269261,0.000134668,0.0001597799,0.0003463679,0.0001276939],"domain_scores_gemma":[0.9842742,0.01243119,0.001805268,0.0002596602,0.0008756786,0.0003539128],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005889372,0.0003915271,0.7051346,0.0004464048,0.0006309519,0.001058386,0.00006013575,0.01442621,0.005398437,0.0008135137,0.002283641,0.2634669],"study_design_scores_gemma":[0.0001812874,0.002915616,0.9425325,0.0003397211,0.001117449,0.00413407,0.0002686674,0.0321337,0.01001274,0.003113048,0.00319641,0.00005488041],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9815854,0.008603334,0.003302553,0.002680832,0.00005805199,0.00002248507,0.0009727625,0.00004001061,0.002734614],"genre_scores_gemma":[0.9969552,0.0009818852,0.001497175,0.0001371517,0.00005661852,0.000006424568,0.0002310819,0.000008361256,0.0001261589],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00286972,"threshold_uncertainty_score":0.01517671,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01604902184031275,"score_gpt":0.2402981473773192,"score_spread":0.2242491255370065,"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."}}