{"id":"W2904891280","doi":"10.1038/s41467-018-07524-z","title":"Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies","year":2018,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":513,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; Statens Serum Institut; National Center for Advancing Translational Sciences; Medical Research Council; National Institutes of Health; Royal Melbourne Hospital Neuroscience Foundation; Chinese University of Hong Kong; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Universitair Medisch Centrum Utrecht; Science Foundation Ireland; Helmholtz Zentrum München; European Regional Development Fund; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; European Commission; Nationwide Children's Hospital; Danish Cancer Society Research Center; Wellcome Trust; Université du Luxembourg; National Health and Medical Research Council; Children's Hospital of Philadelphia; Deutsche Forschungsgemeinschaft; European Science Foundation; Epilepsy Society; University of Dundee; GlaxoSmithKline","keywords":"Epilepsy; Biology; Epigenetics; Genome-wide association study; Genetics; Gene; Genome; Computational biology; Heritability; SNP; Genetic association; Evolutionary biology; Bioinformatics; Single-nucleotide polymorphism; Neuroscience; Genotype","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":[0.0009858048,0.0005767788,0.0007911413,0.001539974,0.0004590127,0.0008222383,0.0004520943,0.0004354896,0.002999402],"category_scores_gemma":[0.002663118,0.0002721567,0.00108758,0.002417179,0.0002895976,0.0002284509,0.001182665,0.0004600558,0.0004217305],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001728835,"about_ca_system_score_gemma":0.0002719736,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001314353,"about_ca_topic_score_gemma":0.002891388,"domain_scores_codex":[0.9992163,0.000266589,0.00007446378,0.0002559562,0.0001141025,0.00007255759],"domain_scores_gemma":[0.9988382,0.0006495409,0.0002052994,0.0001656633,0.0000495622,0.0000918076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.003196615,0.0001094995,0.6799431,0.001224658,0.008079103,0.007511547,0.001214496,0.01145716,0.1745609,0.003423231,0.00439753,0.1048821],"study_design_scores_gemma":[0.00009008812,0.0001398824,0.9730601,0.00007156435,0.001341734,0.002327331,0.0002280385,0.0048712,0.006760103,0.002323087,0.008753398,0.00003345235],"study_design_candidate":"meta_analysis","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9771927,0.002069735,0.01204154,0.0002704674,0.00002177311,0.00003120377,0.00696911,0.0002298408,0.001173613],"genre_scores_gemma":[0.9800721,0.0008158007,0.009889728,0.00009984514,0.00001279618,0.00003321631,0.008619799,0.0000712974,0.0003852959],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002999402,"threshold_uncertainty_score":0.01003397,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01971046936835096,"score_gpt":0.2832435610175162,"score_spread":0.2635330916491653,"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."}}