{"id":"W4205933494","doi":"10.1111/epi.17166","title":"Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study","year":2022,"lang":"en","type":"article","venue":"Epilepsia","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Institute of Mental Health; National Institute of Allergy and Infectious Diseases; Medical Research Council; National Institute on Aging; Sixth Framework Programme; Seventh Framework Programme; Epilepsy Research UK; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; National Institutes of Health; Ministerio de Ciencia y Tecnología; Academy of Finland; Genome Canada; Deutscher Akademischer Austauschdienst; Deutsche Forschungsgemeinschaft; European Science Foundation; Fonds National de la Recherche Luxembourg; Génome Québec","keywords":"Exome sequencing; Epilepsy; Genetics; Exome; Genetic association; Medicine; Biology; Mutation; Single-nucleotide polymorphism; Genotype; Neuroscience; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009075562,0.0007194466,0.00064053,0.001157663,0.000751126,0.0006809488,0.0004445291,0.0009023989,0.002197529],"category_scores_gemma":[0.002299539,0.0004981348,0.0006592934,0.001134561,0.0005328468,0.0003352872,0.000628089,0.0003984162,0.0002066698],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001941239,"about_ca_system_score_gemma":0.0001593571,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002555325,"about_ca_topic_score_gemma":0.002515591,"domain_scores_codex":[0.9989673,0.0002128747,0.0001097571,0.0005248349,0.0001134694,0.00007171012],"domain_scores_gemma":[0.9990446,0.0002678037,0.000273075,0.0002190527,0.00009011887,0.0001053081],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001324438,0.0002211555,0.9760162,0.00009498408,0.00128288,0.006683673,0.0004849689,0.000180573,0.009057643,0.0002404781,0.0003519917,0.004061155],"study_design_scores_gemma":[0.0001467307,0.0003009251,0.9883932,0.00002522717,0.0004759318,0.008586907,0.000203973,0.0006080408,0.0004605799,0.000154113,0.0006251413,0.00001917612],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998861,0.0002833058,0.0004111485,0.00002369294,0.000006098496,0.00001967999,0.0001751196,0.00000507649,0.0002149677],"genre_scores_gemma":[0.9993242,0.00009766738,0.0001931114,0.00003036553,0.000009478274,0.00001241784,0.0002216395,0.000003927675,0.0001071242],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002555325,"threshold_uncertainty_score":0.007351458,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02234197468503042,"score_gpt":0.2801203794853576,"score_spread":0.2577784048003272,"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."}}