{"id":"W1927420265","doi":"10.1111/cge.12464","title":"Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study","year":2014,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":91,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital; Alberta Children's Hospital; Children's Hospital of Eastern Ontario; McGill University; University of Calgary; McGill University and Génome Québec Innovation Centre; University of Ottawa","funders":"Canadian Institutes of Health Research; Genome Canada","keywords":"Exome sequencing; Epilepsy; Rare disease; Medicine; Pediatrics; Epilepsy syndromes; Disease; Genetics; Mutation; Encephalopathy; Bioinformatics; Gene; Biology; Pathology; Internal medicine; Psychiatry","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":[],"consensus_categories":[],"category_scores_codex":[0.0006353331,0.0001920598,0.0003197457,0.00003348511,0.0001144917,0.00002481814,0.0004675578,0.0001672691,0.00001919851],"category_scores_gemma":[0.0005155717,0.000143189,0.0002500991,0.0001503163,0.0001752892,0.000001523792,0.0002803173,0.0002058713,0.00002471496],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001739546,"about_ca_system_score_gemma":0.0001569529,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008576412,"about_ca_topic_score_gemma":0.00004064258,"domain_scores_codex":[0.9981264,0.0002750879,0.0006192505,0.0004998412,0.0001956391,0.0002838042],"domain_scores_gemma":[0.9985523,0.00007775417,0.0002603534,0.0008353113,0.0001358719,0.0001384564],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001072751,0.0005316628,0.9900925,0.00003144752,0.0001572293,0.000008092369,0.0002394787,0.0003239232,0.005876301,0.00009894259,0.001366553,0.001166574],"study_design_scores_gemma":[0.001152726,0.002253486,0.9887059,0.000007057139,0.0002442383,0.000007738608,0.000590878,0.0002230606,0.001253656,0.001160882,0.004103087,0.0002973196],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969652,0.00125558,0.0003925068,0.0001471455,0.0004269274,0.0003752448,0.00004430605,0.00001080839,0.0003822608],"genre_scores_gemma":[0.9972014,0.0005180448,0.0002115081,0.0002792233,0.001462801,0.00001209559,0.00002965816,0.00003329002,0.0002520133],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004622646,"threshold_uncertainty_score":0.5839077,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02362737350728046,"score_gpt":0.3000914072620363,"score_spread":0.2764640337547558,"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."}}