{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001121847,0.00006304882,0.00005843111,0.000006251273,0.0004102707,0.000008465988,0.0002599962,0.00001369225,0.00000273455],"category_scores_gemma":[0.00002489674,0.00003331306,0.00006942602,0.00004790453,0.00009043749,4.444956e-7,0.0003865568,0.00001752756,5.64819e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002868514,"about_ca_system_score_gemma":0.00001495448,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002833635,"about_ca_topic_score_gemma":0.00002417815,"domain_scores_codex":[0.9995517,0.00002120863,0.0001282894,0.000121557,0.00007418432,0.000103071],"domain_scores_gemma":[0.999488,0.00009082495,0.00009038953,0.0002742611,0.00004305417,0.00001344653],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0001504826,0.0002119632,0.2420002,0.0003697989,0.0008422271,0.000002041735,0.0003469159,0.0209104,0.2739998,0.0008429845,0.001607313,0.4587158],"study_design_scores_gemma":[0.0005060406,0.0002814123,0.8377033,0.00001670815,0.0002130463,0.000008318447,0.002041045,0.0006450507,0.0944037,0.0005650835,0.06345779,0.0001585457],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9722795,0.02686555,0.0000329908,0.000207158,0.0001194188,0.0003597224,0.0001107376,0.000001383448,0.00002348574],"genre_scores_gemma":[0.9951648,0.003783843,0.0004635824,0.00006291652,0.00003970192,0.0003168698,0.000006570829,0.000009132267,0.000152627],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.595703,"threshold_uncertainty_score":0.3155512,"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."}}