{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003020246,0.0001217059,0.0002248595,0.00001530369,0.00001993179,0.000005862026,0.0001090216,0.000108407,0.00005607814],"category_scores_gemma":[0.0005414391,0.00009857745,0.00005452576,0.00007805156,0.0002346027,0.000002747133,0.0001115011,0.00009908853,0.000005216085],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004741358,"about_ca_system_score_gemma":0.00006038582,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009491226,"about_ca_topic_score_gemma":0.00008171429,"domain_scores_codex":[0.9989163,0.00008764957,0.0003375604,0.0004145991,0.00007160089,0.0001723321],"domain_scores_gemma":[0.9992684,0.0001547946,0.0000859848,0.0003445905,0.00006299335,0.00008326122],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005528046,0.0002267982,0.984055,0.00006983105,0.00001701605,0.000002272873,0.00009493036,0.00001208531,0.004806256,0.000005315738,0.00005071963,0.010107],"study_design_scores_gemma":[0.001019207,0.0005510001,0.9945431,0.00005650822,0.000008265431,0.000006743738,0.0002312528,0.001084012,0.002066089,0.0000220062,0.0002759382,0.000135901],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987659,0.0003093257,0.00004520367,0.00001460415,0.00006339172,0.0002664306,0.00003400505,0.00000516861,0.0004959776],"genre_scores_gemma":[0.998661,0.00009919496,0.001060443,0.00003883171,0.00005045699,0.000006936025,0.00004458473,0.00001194557,0.00002658021],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01048811,"threshold_uncertainty_score":0.4019872,"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."}}