{"id":"W4389441777","doi":"10.1212/wnl.86.16_supplement.p5.155","title":"Diagnostic Yield and Treatment Impact of Targeted Whole Exome Sequencing in Early Onset Epilepsy (P5.155)","year":2016,"lang":"en","type":"article","venue":"Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; Child and Family Research Institute; B.C. Women's Hospital & Health Centre; BC Children's Hospital; University of British Columbia","funders":"","keywords":"Epilepsy; Exome sequencing; Medicine; Yield (engineering); Exome; Pediatrics; Psychiatry; Genetics; Biology; Mutation","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":[0.001088088,0.0004387159,0.0003160682,0.0004713069,0.0002798412,0.0005515006,0.0002240407,0.0003580913,0.0009832606],"category_scores_gemma":[0.005328608,0.0001455968,0.0003010408,0.0002758448,0.0003222669,0.0003027635,0.0004837826,0.0002904055,0.0002042123],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003296819,"about_ca_system_score_gemma":0.0002801864,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008513769,"about_ca_topic_score_gemma":0.001454471,"domain_scores_codex":[0.999471,0.0001276895,0.00009341502,0.0001357479,0.0001133395,0.000058797],"domain_scores_gemma":[0.9979733,0.001121256,0.0004648725,0.00009058131,0.0002253044,0.0001246295],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006095954,0.0000460098,0.9503073,0.00005512169,0.00005671037,0.00765324,0.0001234342,0.0003974838,0.009581711,0.00004293782,0.0002474254,0.03087909],"study_design_scores_gemma":[0.00005215394,0.0006477142,0.9492882,0.00005999093,0.0002063126,0.0384524,0.0002476965,0.001222684,0.008716255,0.0001665947,0.0009197679,0.00002015388],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997933,0.0006909862,0.0004569641,0.000121729,0.000005857451,0.000006759976,0.0001554067,0.00001220481,0.0006170433],"genre_scores_gemma":[0.9988713,0.0001750838,0.0006703414,0.00003268421,0.000008092372,0.000002929259,0.0001650615,0.000004329639,0.0000701227],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001088088,"threshold_uncertainty_score":0.005754411,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01147718186323209,"score_gpt":0.2356374516135336,"score_spread":0.2241602697503015,"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."}}