{"id":"W2952564037","doi":"10.3389/fneur.2019.00434","title":"Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy","year":2019,"lang":"en","type":"article","venue":"Frontiers in Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":100,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Addiction and Mental Health; University of British Columbia; BC Children's Hospital","funders":"Alva Foundation; Rare Disease Foundation; BC Children's Hospital; Children's Hospital Foundation","keywords":"Epilepsy; Exome sequencing; Medicine; Yield (engineering); Exome; Clinical neurology; Neuroscience; Biology; Genetics; Psychiatry; Mutation; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005192304,0.0001201226,0.0002202673,0.0001117123,0.000009501528,0.000004070374,0.00007999011,0.0001282095,0.00001056544],"category_scores_gemma":[0.00009717716,0.0001063236,0.00006579704,0.00006387656,0.0000557438,0.000002557985,0.00004590276,0.00006421683,0.000001536233],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003146535,"about_ca_system_score_gemma":0.00009694071,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004169427,"about_ca_topic_score_gemma":0.00008752273,"domain_scores_codex":[0.9992563,0.00005453014,0.0001694475,0.0002735824,0.00003117102,0.0002150133],"domain_scores_gemma":[0.9996498,0.00003711991,0.00005343481,0.0001971357,0.00001180432,0.00005067989],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002466059,0.00004101243,0.9704382,0.000007064142,0.00002874029,0.00005677332,0.00007965175,0.0007924761,0.02775043,0.000001428365,0.0002433294,0.0003143344],"study_design_scores_gemma":[0.0008597486,0.001886319,0.9936247,0.000006899654,0.000009303986,0.00002644222,0.00003073073,0.0002390026,0.002950282,0.0001094707,0.0001444671,0.0001126018],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997945,0.001415512,0.00002039473,0.0000335794,0.0002424749,0.0002325167,0.00004931738,0.000002550355,0.00005863591],"genre_scores_gemma":[0.9990637,0.000633323,0.00008620293,0.0000952301,0.00002247525,0.00001562034,0.00004038586,0.00001261675,0.00003041181],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02480014,"threshold_uncertainty_score":0.4335752,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006727259212537657,"score_gpt":0.2184565116047752,"score_spread":0.2117292523922376,"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."}}