{"id":"W4281771743","doi":"10.1016/j.ebiom.2022.104098","title":"The role of common genetic variation in presumed monogenic epilepsies","year":2022,"lang":"en","type":"article","venue":"EBioMedicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal; Hospital for Sick Children; Centre Hospitalier Universitaire Sainte-Justine; SickKids Foundation; University of Toronto; Université du Québec à Chicoutimi; Université de Montréal","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Medical Research Council; Wellcome Trust","keywords":"Epilepsy; Epilepsy syndromes; Genetic architecture; Population; Genetic testing; Genetic variation; Medicine; Genetic heterogeneity; Genetics; Trait; Biology; Phenotype; Psychiatry; Gene","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":[0.0001598793,0.0000578997,0.00008151913,0.00003863292,0.0000936256,0.000003370448,0.0001673886,0.00002235095,0.00002491243],"category_scores_gemma":[0.00002672768,0.00004409756,0.00003502955,0.00009735433,0.00005616853,6.295627e-7,0.0001282039,0.00004592861,8.15593e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001229912,"about_ca_system_score_gemma":0.00004468364,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009066714,"about_ca_topic_score_gemma":0.00004061802,"domain_scores_codex":[0.9994157,0.00006362129,0.0001787188,0.0001235203,0.0001049916,0.0001134576],"domain_scores_gemma":[0.9996415,0.00001810407,0.00007154876,0.0002225599,0.00001832642,0.00002790268],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002072807,0.0001986824,0.02611554,0.00001238463,0.00006810284,0.000006323929,0.0003994895,0.0007685749,0.9579019,0.0001795564,0.001070153,0.01307205],"study_design_scores_gemma":[0.001642384,0.0009139274,0.7972757,0.00000920792,0.00004801159,0.00002483915,0.001334309,0.001411926,0.02646258,0.002742757,0.1679323,0.0002021365],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902102,0.008980611,0.00001573769,0.0002101586,0.0001265517,0.0001412193,0.00002978358,0.000002610464,0.0002831614],"genre_scores_gemma":[0.9992976,0.0002419152,0.00003634052,0.00007445761,0.00007718756,0.00004528315,0.0000917982,0.000007905922,0.0001275698],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9314393,"threshold_uncertainty_score":0.1798246,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002999992975317915,"score_gpt":0.2095963174828086,"score_spread":0.2065963245074907,"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."}}