{"id":"W4280517574","doi":"10.3390/genes13050872","title":"The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Genetic testing; Biology; Genetics; Computational biology; Medicine; Bioinformatics; Evolutionary biology; Biotechnology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.003421294,0.0001422771,0.0001655113,0.0009579408,0.0002930972,0.0007267094,0.0002470637,0.0002264404,0.0007767466],"category_scores_gemma":[0.02082295,0.00009643242,0.0001940895,0.0008573801,0.0003482741,0.000617379,0.0005488398,0.0003473774,0.0001088181],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001329362,"about_ca_system_score_gemma":0.001644931,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03217757,"about_ca_topic_score_gemma":0.07442255,"domain_scores_codex":[0.9980179,0.0006561068,0.0002134276,0.0001806492,0.0007842893,0.0001476126],"domain_scores_gemma":[0.9851844,0.007092143,0.004724109,0.000646503,0.001782488,0.0005703135],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00009421651,0.00001626802,0.9469386,0.00004768699,0.00001791432,0.0004446945,0.0003048013,0.0004854038,0.0005373768,0.0001354588,0.0005677325,0.05040986],"study_design_scores_gemma":[0.000004239701,0.00009097123,0.9938807,0.00007951727,0.00002202426,0.00225706,0.000427052,0.001207301,0.0003993305,0.0001362452,0.001484997,0.00001048536],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9846392,0.004192391,0.001887793,0.003321653,0.00002380569,0.00004167697,0.001105698,0.00004376799,0.004743969],"genre_scores_gemma":[0.9971015,0.001026633,0.001372318,0.0001187799,0.00002898069,0.000005861978,0.0002585825,0.000005123959,0.00008212498],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.03217757,"threshold_uncertainty_score":0.06398052,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03044708305636581,"score_gpt":0.240628571965793,"score_spread":0.2101814889094272,"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."}}