{"id":"W2734527849","doi":"10.1038/nn.4598","title":"Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder","year":2017,"lang":"en","type":"article","venue":"Nature Neuroscience","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":310,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institutes of Health; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Hospital for Sick Children; Ministerio de Economía y Competitividad; Fundación María José Jove; Genome Canada; Centro de Investigación Biomédica en Red de Salud Mental; GlaxoSmithKline; National Center for Research Resources; Japan Agency for Medical Research and Development; Fundación Alicia Koplowitz; Instituto de Salud Carlos III; Amgen; Simons Foundation Autism Research Initiative; University of Toronto; Autism Speaks; AstraZeneca; Howard Hughes Medical Institute","keywords":"Genetics; Biology; Autism; Autism spectrum disorder; Nonsynonymous substitution; Exome sequencing; Proband; Mutation; Gene; Genome; Medicine","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":[0.00006340796,0.00006228971,0.00006029412,0.00002176462,0.0002371772,0.00004365687,0.0002007359,0.00008390799,0.000002105285],"category_scores_gemma":[0.0001591082,0.00005764921,0.00001878602,0.0000691603,0.0001813085,0.00001277133,0.00009179085,0.00009405235,4.229463e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006822045,"about_ca_system_score_gemma":0.00004916966,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005176208,"about_ca_topic_score_gemma":0.000147269,"domain_scores_codex":[0.9995078,0.00001574736,0.0001055401,0.0002018453,0.00005291597,0.0001161629],"domain_scores_gemma":[0.9995758,0.000007058865,0.00008537192,0.0002841855,0.00001844966,0.00002913398],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00001472893,0.0001331872,0.4331321,0.00002278458,0.000003732737,0.000002222034,0.00008188339,0.0002551722,0.5063703,0.05891418,0.0001962819,0.0008733977],"study_design_scores_gemma":[0.0001620881,0.00005551421,0.9793998,0.000004521204,0.000004033203,0.00001635913,0.00001677139,0.000129437,0.01603905,0.001971845,0.00213504,0.00006553873],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960189,0.0002318743,0.0005866046,0.002569392,0.0001226568,0.00009538302,0.0001843249,0.000003249698,0.0001875487],"genre_scores_gemma":[0.9994907,0.0001039102,0.00006644733,0.00009074373,0.00001491483,0.000008047744,0.00008947466,0.00000357828,0.0001321588],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5462677,"threshold_uncertainty_score":0.2350866,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006216965073851837,"score_gpt":0.2583138732802894,"score_spread":0.2520969082064375,"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."}}