{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002339189,0.00009037722,0.0001324408,0.00004013357,0.00007950253,0.000008387093,0.0001000639,0.00004273137,0.00001170397],"category_scores_gemma":[0.0008084098,0.00008582283,0.00003006287,0.0001034328,0.00003596534,0.000001910676,0.0001603966,0.00008202117,2.767551e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001259232,"about_ca_system_score_gemma":0.0000535762,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000910371,"about_ca_topic_score_gemma":0.00006516076,"domain_scores_codex":[0.9991106,0.00002953871,0.0002235466,0.0002880945,0.0001005828,0.0002476345],"domain_scores_gemma":[0.9995176,0.0001198563,0.00008239948,0.0001568638,0.00004241729,0.00008083678],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001958441,0.0001904368,0.9905371,0.0000281556,0.00003296247,0.0000237742,0.00003732068,0.000403674,0.003272668,0.000002219816,0.00006184198,0.005213984],"study_design_scores_gemma":[0.0007787698,0.000173707,0.9970951,0.000009180359,0.00002153993,0.00002346847,0.000154565,0.00008633142,0.001106496,0.00000998303,0.0004243778,0.0001164965],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985163,0.000620464,0.0000329444,0.00002229432,0.0000516347,0.0005213958,0.00009043549,0.00000490877,0.0001396451],"genre_scores_gemma":[0.9981753,0.0001700488,0.0003600054,0.0001261515,0.00003889967,0.0009901031,0.00005738352,0.00001511926,0.00006701339],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006557967,"threshold_uncertainty_score":0.3499753,"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."}}