{"id":"W4200407202","doi":"10.1212/nxg.0000000000000650","title":"Multigene Panel Testing in a Large Cohort of Adults With Epilepsy","year":2021,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Invitae","keywords":"Genetic testing; Epilepsy; Medicine; Pediatrics; Cohort; Medical diagnosis; Genetic diagnosis; Psychiatry; Internal medicine; Pathology; Genetics; Biology","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":[],"consensus_categories":[],"category_scores_codex":[0.00007131208,0.0001301735,0.0001769462,0.00003574564,0.00003024164,0.000004723825,0.0001265968,0.0001451553,0.00001155771],"category_scores_gemma":[0.0001176203,0.0001257688,0.00004295533,0.0001303925,0.00006757581,8.168164e-7,0.0001271186,0.00009687542,0.000002264809],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002347613,"about_ca_system_score_gemma":0.0001512412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001448025,"about_ca_topic_score_gemma":0.0002784914,"domain_scores_codex":[0.9989677,0.00007278108,0.000220509,0.0003895837,0.00007886993,0.0002705309],"domain_scores_gemma":[0.9993061,0.00002501438,0.00008295713,0.0003533272,0.0001664935,0.0000661293],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000172542,0.000178097,0.7488068,0.00002291626,0.00002647122,0.0001766436,0.00003618447,0.0008279837,0.2490281,0.000006139044,0.00003607508,0.0006820937],"study_design_scores_gemma":[0.001326623,0.0006612103,0.9117239,0.00001131144,0.00002633526,0.0001517195,0.00004370782,0.0006438757,0.08372015,0.00001736258,0.001515861,0.0001579668],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978631,0.001406946,0.0001375333,0.00005007643,0.00008022117,0.000140494,0.00005572609,0.000005237959,0.0002606921],"genre_scores_gemma":[0.9969817,0.0003619613,0.001760226,0.0006410881,0.00006596841,0.00001516874,0.0001172766,0.0000244191,0.00003214422],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1653079,"threshold_uncertainty_score":0.5128701,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01101195347373932,"score_gpt":0.2199621379872513,"score_spread":0.2089501845135119,"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."}}