{"id":"W2955944083","doi":"10.1111/epi.16273","title":"Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability","year":2019,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Toronto Western Hospital; Montreal Children's Hospital; University of Toronto; Hospital for Sick Children","funders":"Invitae","keywords":"Epilepsy; Intellectual disability; Clinical neurology; Medicine; Psychiatry; Psychology; Central nervous system disease; Physical medicine and rehabilitation; Neuroscience; Pediatrics","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":[0.001421264,0.0002987877,0.0002086092,0.001116956,0.0002273165,0.0004862857,0.0002407402,0.0005378128,0.002405855],"category_scores_gemma":[0.006848115,0.0001162598,0.0001544042,0.0005023369,0.0002002951,0.000504075,0.0005901837,0.0003234439,0.0004083992],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001500921,"about_ca_system_score_gemma":0.0001886116,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009539679,"about_ca_topic_score_gemma":0.001377543,"domain_scores_codex":[0.9991133,0.0002985661,0.0001415478,0.000158357,0.0002003201,0.00008796833],"domain_scores_gemma":[0.9956548,0.001940287,0.001294894,0.0001703209,0.0005665394,0.000373109],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001106088,0.00002320527,0.9927254,0.00001180861,0.000009303045,0.0004797523,0.00007137386,0.00006138353,0.0005209983,0.00001227866,0.0002474747,0.005726447],"study_design_scores_gemma":[0.00001406399,0.0003717549,0.9912053,0.00002591677,0.00002524462,0.005563196,0.0002838952,0.001023259,0.0008096565,0.00003993827,0.0006305379,0.000007181875],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997207,0.0004278048,0.0002916989,0.0001453918,0.00001234302,0.00001771449,0.0003871611,0.00001829723,0.001492451],"genre_scores_gemma":[0.9991787,0.00006802975,0.0003770643,0.00005740733,0.00001382588,0.000008806083,0.0002010527,0.000002035773,0.00009303603],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002405855,"threshold_uncertainty_score":0.008048356,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02519609415333592,"score_gpt":0.2727799869814976,"score_spread":0.2475838928281617,"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."}}