{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003539727,0.0001744797,0.0006559844,0.0001018514,0.00009363008,0.00002603981,0.0004166853,0.00004471107,0.000003641568],"category_scores_gemma":[0.00006258585,0.0001206713,0.0001676945,0.000052683,0.000495162,0.00000169405,0.0001214393,0.0001527225,6.072679e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002815953,"about_ca_system_score_gemma":0.0004852936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009670257,"about_ca_topic_score_gemma":0.00001761033,"domain_scores_codex":[0.9989176,0.0001946628,0.0005390288,0.0001262012,0.00007354656,0.0001489865],"domain_scores_gemma":[0.998359,0.00003314788,0.001250264,0.0002051468,0.00008397767,0.00006848652],"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":[0.00003963427,0.00009206416,0.0003393028,0.0006251198,0.0002719709,0.0000560007,0.0003405414,0.00002832453,0.001612858,0.00002699122,0.00006217796,0.996505],"study_design_scores_gemma":[0.003447521,0.01256819,0.03705529,0.01914487,0.005688461,0.008277068,0.004868691,0.0000115843,0.003148321,0.00373846,0.8989504,0.003101165],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.4111073,0.5887154,0.00001059301,0.000007644301,0.00004478408,0.00007712285,0.00002599754,3.634992e-7,0.0000107157],"genre_scores_gemma":[0.1693319,0.8297509,0.00073215,0.00001637702,0.0001091143,0.000004380719,0.00002081026,0.00001756904,0.00001680227],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9934039,"threshold_uncertainty_score":0.4920833,"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."}}