{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007208672,0.000176758,0.0002790675,0.002382462,0.0002381045,0.0005275885,0.0005462312,0.0006383306,0.003258815],"category_scores_gemma":[0.004676129,0.0001884397,0.0002359227,0.0009859899,0.0004546677,0.0005322054,0.0005080485,0.000373336,0.0004932549],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000210942,"about_ca_system_score_gemma":0.0001090733,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001736228,"about_ca_topic_score_gemma":0.00111625,"domain_scores_codex":[0.9992767,0.0002103543,0.00009153922,0.0002148967,0.0001218355,0.00008469652],"domain_scores_gemma":[0.9971858,0.001099319,0.0009262374,0.0002888021,0.0002559718,0.0002439556],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00113284,0.00003393193,0.9766841,0.00001746147,0.00006932989,0.0005830831,0.0001883791,0.0002814345,0.008917475,0.0004650324,0.0001625059,0.01146445],"study_design_scores_gemma":[0.000005086438,0.00004908555,0.996601,0.000003068494,0.00001674447,0.001932228,0.00009064086,0.0003576975,0.0006377482,0.0001696855,0.0001317762,0.00000522754],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981858,0.0006535036,0.0002258659,0.00004494372,0.000003449119,0.000002212252,0.0002481703,0.00001192677,0.0006240678],"genre_scores_gemma":[0.9994485,0.0001705447,0.00006817582,0.000004761353,0.00000611058,0.000001531096,0.000103108,0.000006944768,0.0001902946],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003258815,"threshold_uncertainty_score":0.01090187,"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."}}