{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003562892,0.0001001707,0.0001281058,0.0001171825,0.0001682177,0.00003208821,0.0003600554,0.0002745764,0.00001724221],"category_scores_gemma":[0.0002544851,0.000113542,0.00003314475,0.0005447327,0.00007183858,0.00001677186,0.0002384086,0.0002011142,0.00001592528],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002590839,"about_ca_system_score_gemma":0.00007665258,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002274326,"about_ca_topic_score_gemma":0.0002087982,"domain_scores_codex":[0.9990781,0.0001532124,0.0003496842,0.0001805205,0.00009973635,0.0001387628],"domain_scores_gemma":[0.9988332,0.00006576013,0.0002119957,0.0006782156,0.0001790008,0.00003179568],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000008974512,0.0001770021,0.6410714,0.00001999814,0.000100346,2.12388e-7,0.001003241,0.00003115552,0.3456893,0.0114067,0.0002761464,0.000215439],"study_design_scores_gemma":[0.0002919679,0.00001521038,0.9862781,0.00001188651,0.00002519225,0.000001707694,0.0001406617,0.0001311802,0.005465893,0.0006180427,0.00690097,0.0001191728],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971372,0.0002468515,0.0002395175,0.001098734,0.00007434261,0.0002463938,0.0003492546,0.00002729279,0.0005803807],"genre_scores_gemma":[0.9905161,0.001036856,0.0003730099,0.0001088272,0.00002151731,0.00007609906,0.007344748,0.00001604345,0.0005068437],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3452066,"threshold_uncertainty_score":0.4630108,"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."}}