{"id":"W4384923250","doi":"10.1038/s41467-023-39539-6","title":"Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals","year":2023,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Toronto; University Health Network; Toronto Western Hospital; University of Calgary; Université de Montréal","funders":"National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; Stanley Center for Psychiatric Research, Broad Institute; Perelman School of Medicine, University of Pennsylvania; Intellectual and Developmental Disabilities Research Center; Deutsche Forschungsgemeinschaft; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; Institute for Translational Medicine and Therapeutics; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Wellcome Trust; University of Pennsylvania; National Science Foundation; Wellcome; National Institutes of Health; U.S. Department of Health and Human Services; Medical Research Council; Hartwell Foundation; Children's Hospital of Philadelphia","keywords":"Copy-number variation; Epilepsy; Phenotype; Genetics; Biology; Pleiotropy; Population; Comparative genomic hybridization; Genome-wide association study; Autism; Genome; Bioinformatics; Computational biology; Medicine; Single-nucleotide polymorphism; Gene; Genotype; Neuroscience; Psychiatry","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":[0.0004334908,0.0002902818,0.0003697535,0.001346419,0.0003664638,0.0003520462,0.000249282,0.0002858584,0.001188126],"category_scores_gemma":[0.001267395,0.0001629247,0.0003432383,0.00169331,0.0002223843,0.000119432,0.0003271037,0.0001912709,0.0001914355],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002774577,"about_ca_system_score_gemma":0.0002447279,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008219568,"about_ca_topic_score_gemma":0.01086165,"domain_scores_codex":[0.9995105,0.00005171178,0.0000436354,0.0002515756,0.00007741086,0.00006507648],"domain_scores_gemma":[0.9997649,0.00009107363,0.00005449131,0.00003416241,0.00002611858,0.0000293472],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006162851,0.00007858091,0.9295992,0.00007588424,0.0005166155,0.001277075,0.0004340503,0.0008831939,0.04117142,0.0002461472,0.001079582,0.024022],"study_design_scores_gemma":[0.00003436281,0.00006428205,0.9961243,0.000004441281,0.0001275528,0.0006671134,0.0000625531,0.000579341,0.001256943,0.00008806708,0.0009819698,0.000009017405],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971895,0.0001581957,0.0003150808,0.00001738166,0.000002281237,0.00001271882,0.002072874,0.00001461073,0.0002174106],"genre_scores_gemma":[0.9937657,0.0001333676,0.0008656398,0.00002999199,0.000008249033,0.00003370184,0.004784966,0.00001052225,0.0003678278],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008219568,"threshold_uncertainty_score":0.01634347,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01045091097625838,"score_gpt":0.2570107518834703,"score_spread":0.2465598409072119,"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."}}