{"id":"W4200407202","doi":"10.1212/nxg.0000000000000650","title":"Multigene Panel Testing in a Large Cohort of Adults With Epilepsy","year":2021,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Invitae","keywords":"Genetic testing; Epilepsy; Medicine; Pediatrics; Cohort; Medical diagnosis; Genetic diagnosis; Psychiatry; Internal medicine; Pathology; Genetics; Biology","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":[0.0007780507,0.0002192653,0.0001936654,0.0004816249,0.0004706402,0.0004102683,0.0001965292,0.0004008586,0.001306261],"category_scores_gemma":[0.00250011,0.0002246941,0.000230915,0.000658154,0.0001935838,0.000438988,0.0004471455,0.0003528318,0.0002281955],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002231183,"about_ca_system_score_gemma":0.0002459996,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004453281,"about_ca_topic_score_gemma":0.005964356,"domain_scores_codex":[0.9993874,0.0001846495,0.00006219852,0.0001812805,0.0001117786,0.00007269289],"domain_scores_gemma":[0.9986412,0.0003247009,0.0006295011,0.0001302862,0.0001246305,0.0001496509],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003416594,0.00001354772,0.9987129,0.000003513916,0.00001328246,0.000123497,0.00005373663,0.00001294451,0.0001210461,0.000007554271,0.0001045631,0.0007993928],"study_design_scores_gemma":[0.00000725796,0.00009066478,0.9979922,0.000006506831,0.00001459338,0.001223207,0.0001501619,0.0001778672,0.0000595572,0.00002469337,0.0002501144,0.000003285551],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990227,0.0001311376,0.0001019854,0.00004168924,0.000004039225,0.00001285832,0.0003698568,0.000003305222,0.0003123627],"genre_scores_gemma":[0.9993697,0.00008628226,0.0001301635,0.00007405734,0.000009909395,0.00001329179,0.000247,0.000001597099,0.00006806482],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004453281,"threshold_uncertainty_score":0.008854687,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01101195347373932,"score_gpt":0.2199621379872513,"score_spread":0.2089501845135119,"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."}}