{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002026652,0.0003561299,0.0003583796,0.0004674212,0.0001426712,0.0007504373,0.0002157264,0.0003384516,0.001205031],"category_scores_gemma":[0.01212529,0.0001123432,0.0004716455,0.0003407886,0.0002019216,0.0005004711,0.0005331181,0.000396311,0.0001571062],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006429992,"about_ca_system_score_gemma":0.000436214,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001113834,"about_ca_topic_score_gemma":0.001370759,"domain_scores_codex":[0.9982824,0.001031,0.0001196729,0.0001286959,0.000327976,0.0001102424],"domain_scores_gemma":[0.992174,0.005951433,0.0009111661,0.000174313,0.0005602664,0.0002287201],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004594435,0.0003459,0.6340358,0.000252007,0.0004021743,0.002604861,0.0001556799,0.01331174,0.006243935,0.0008909655,0.001498699,0.3356637],"study_design_scores_gemma":[0.0001490158,0.001986942,0.9489434,0.0001979621,0.0008800223,0.007189091,0.0004202581,0.02642966,0.0083536,0.002243517,0.003151278,0.0000552264],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9873604,0.005389478,0.00274185,0.001742274,0.00003847633,0.00001547255,0.0003233289,0.00002988186,0.0023587],"genre_scores_gemma":[0.9979782,0.000701244,0.0009801866,0.0000759696,0.00002977473,0.000003810551,0.000116102,0.00000602713,0.000108758],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002026652,"threshold_uncertainty_score":0.01071805,"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."}}