{"id":"W2766662494","doi":"10.1016/j.ajhg.2017.09.008","title":"High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies","year":2017,"lang":"en","type":"review","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":456,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre hospitalier universitaire de Québec; Cégep de l'Abitibi Témiscamingue; Children's Hospital of Eastern Ontario; Centre Hospitalier Universitaire de Sherbrooke; University of British Columbia; Toronto Western Hospital; Université du Québec à Chicoutimi; Université de Montréal; Hospital for Sick Children; Université du Québec à Montréal; McGill University and Génome Québec Innovation Centre; Montreal Neurological Institute and Hospital; McGill Genome Centre; SickKids Foundation; Université de Sherbrooke; University of Toronto; McGill University; BC Children's Hospital; Centre Hospitalier de l’Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Human Genome Research Institute; University of Toronto; Génome Québec; Fondation Jean-Louis Lévesque; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Ontario Brain Institute; Genome Canada","keywords":"Genetics; Missense mutation; Candidate gene; Biology; Gene; Intellectual disability; Epilepsy; Whole genome sequencing; Mutation; Genome; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000758167,0.0004313987,0.001049878,0.001308161,0.0001306606,0.0006902359,0.0006525083,0.001154093,0.001872331],"category_scores_gemma":[0.001586272,0.0001079204,0.0003392276,0.0009961491,0.0003955252,0.0006532064,0.0004458712,0.0009124706,0.0007204967],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003033303,"about_ca_system_score_gemma":0.0006525634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000491795,"about_ca_topic_score_gemma":0.00085289,"domain_scores_codex":[0.9997151,0.00005251694,0.00005187536,0.00006843056,0.0000879537,0.00002414686],"domain_scores_gemma":[0.9992773,0.0004282358,0.0001202998,0.00002080027,0.0001102499,0.00004311762],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001032394,0.00002623425,0.003571211,0.005077371,0.0001729442,0.003774142,0.00006678025,0.0002979648,0.001606271,0.00278098,0.01775015,0.9647727],"study_design_scores_gemma":[0.00005282926,0.0001305795,0.01207497,0.005467832,0.0007485091,0.06856525,0.0001751638,0.0002619486,0.001900846,0.004866359,0.9057045,0.00005114546],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001310135,0.9957961,0.0004907759,0.0007191678,0.0002271334,0.000002796707,0.00004592202,0.00001676455,0.00139113],"genre_scores_gemma":[0.009338945,0.9875057,0.0006703538,0.0008269981,0.0007242329,0.000005325696,0.0001112076,0.000007852613,0.0008093641],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.001872331,"threshold_uncertainty_score":0.006263554,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04638554223442326,"score_gpt":0.3383900866201144,"score_spread":0.2920045443856912,"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."}}