{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001619915,0.0005427542,0.0004216145,0.002069306,0.0004675969,0.0006661933,0.0006603678,0.0005769075,0.002409204],"category_scores_gemma":[0.007025252,0.0001907249,0.0006575239,0.001510239,0.001274737,0.0005248677,0.0009133552,0.0004548132,0.0001450714],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002957684,"about_ca_system_score_gemma":0.0002352215,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002912513,"about_ca_topic_score_gemma":0.003029685,"domain_scores_codex":[0.9978285,0.0007046615,0.0002674869,0.0006886765,0.0003505505,0.0001600122],"domain_scores_gemma":[0.9947305,0.002307103,0.00184675,0.0004981784,0.0002448844,0.000372516],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005042126,0.00002219542,0.986381,0.00004281634,0.0005477475,0.001587768,0.0002929356,0.000246379,0.002515167,0.0003975282,0.00007261818,0.00738973],"study_design_scores_gemma":[0.00001303016,0.0001081669,0.994705,0.00001921923,0.0001727347,0.003317415,0.0001603679,0.0005382494,0.0003178751,0.0004626703,0.0001779228,0.00000749736],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984286,0.0006490826,0.0003695755,0.00007731564,0.000005089312,0.000004264597,0.00011438,0.000005797611,0.0003457511],"genre_scores_gemma":[0.9997002,0.00007583349,0.0001211763,0.000008633726,0.000005676431,0.000001321946,0.00005356808,0.000001910274,0.00003171774],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002912513,"threshold_uncertainty_score":0.008567035,"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."}}