{"id":"W4200011057","doi":"10.1212/nxg.0000000000000650","title":"Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.","year":2022,"lang":"en","type":"article","venue":"PubMed","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital","funders":"","keywords":"Genetic testing; Medicine; Epilepsy; Pediatrics; Cohort; Medical diagnosis; Genetic diagnosis; Psychiatry; Internal medicine; Pathology; Genetics; Gene; 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":[0.001866094,0.0002665117,0.0002541969,0.0007787937,0.0003099411,0.0004672158,0.0002821731,0.0004860758,0.0007959229],"category_scores_gemma":[0.007247326,0.0002496366,0.0002522923,0.0006684765,0.0002198607,0.0005149323,0.0005656006,0.0003521092,0.0001949551],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002007362,"about_ca_system_score_gemma":0.0002195628,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00208658,"about_ca_topic_score_gemma":0.002657563,"domain_scores_codex":[0.9986823,0.0005014534,0.0001442912,0.0002947582,0.0002748961,0.0001023031],"domain_scores_gemma":[0.9960299,0.001390963,0.001792702,0.0002681684,0.0002920506,0.000226331],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003102519,0.000008417607,0.9989473,0.0000030489,0.00001176442,0.0001063668,0.00002813796,0.00001360835,0.00008840387,0.000003926647,0.00004152679,0.0007164717],"study_design_scores_gemma":[0.000006430585,0.00009437653,0.9970356,0.00000734887,0.00002271294,0.002126706,0.0001264394,0.0003410183,0.00008773996,0.00001831589,0.0001302618,0.000003085167],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989988,0.0002424153,0.0001397303,0.00004637205,0.00000359055,0.00001188779,0.0003433421,0.000003922395,0.0002099801],"genre_scores_gemma":[0.9994325,0.00009965181,0.0001655475,0.00003208893,0.000007395806,0.000009607574,0.0002242996,0.000001104297,0.00002775056],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00208658,"threshold_uncertainty_score":0.00986892,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01680213201082194,"score_gpt":0.2142620082432871,"score_spread":0.1974598762324652,"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."}}