{"id":"W4411572080","doi":"10.1111/cge.70008","title":"Diagnostic Utility of Exome Data Reanalysis After <i>In Silico</i> Multi‐Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University; Children's Hospital of Eastern Ontario; Children’s Health Research Institute; University of Ottawa","funders":"Genome Alberta; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Génome Québec; Ontario Research Foundation","keywords":"Exome sequencing; Intellectual disability; In silico; Epilepsy; Exome; Retrospective cohort study; Medicine; Cohort; Cohort study; Bioinformatics; Gene; Genetics; Psychiatry; Internal medicine; Biology; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001367207,0.0002708142,0.0007270551,0.00004215369,0.00007338652,0.00002536,0.0004178944,0.000217399,0.00001430845],"category_scores_gemma":[0.01937059,0.0002120829,0.000130742,0.0002710124,0.0005866985,0.000005855319,0.0008387546,0.0001707794,9.823068e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000262701,"about_ca_system_score_gemma":0.0003037551,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002875638,"about_ca_topic_score_gemma":0.0004619094,"domain_scores_codex":[0.9965542,0.0002881214,0.001393936,0.001268748,0.0001887339,0.0003062656],"domain_scores_gemma":[0.9954873,0.002769721,0.0002209643,0.001013304,0.0003394616,0.0001692492],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001544866,0.003864836,0.9875841,0.00004512469,0.0004543017,0.00001064095,0.00004456912,0.000006592791,0.00004044724,1.427578e-7,0.00006274098,0.006341616],"study_design_scores_gemma":[0.002963013,0.002036025,0.992979,0.0000377275,0.0004623713,0.000001910606,0.0002120279,0.0008283834,0.00008135768,0.00002189802,0.000123936,0.000252327],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963682,0.0002900225,0.0007015368,0.00001242317,0.0001254369,0.001679405,0.0008029816,0.000006906632,0.00001308312],"genre_scores_gemma":[0.9907889,0.0003084994,0.008149459,0.0001115933,0.00007334112,0.0001253587,0.0003751432,0.00002577061,0.00004193926],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01800339,"threshold_uncertainty_score":0.9888896,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06658844027720238,"score_gpt":0.3627883091030915,"score_spread":0.2961998688258891,"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."}}