{"id":"W2484001856","doi":"10.1038/npjgenmed.2016.27","title":"Genome-wide characteristics of de novo mutations in autism","year":2016,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":238,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Addiction and Mental Health; Memorial University of Newfoundland; Holland Bloorview Kids Rehabilitation Hospital; University of Alberta; Ontario Genomics; SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; U.S. Public Health Service; GlaxoSmithKline; Children's Hospital Foundation; Ontario Genomics; Stollery Children’s Hospital Foundation; National Alliance for Research on Schizophrenia and Depression; Ontario Genomics Institute; Hospital for Sick Children; Vetenskapsrådet; Ontario Brain Institute; Sick Kids Foundation; Genome Canada; Government of Ontario; University of Toronto; Autism Speaks","keywords":"Genetics; Biology; Germline; DNA methylation; Epigenetics; Gene; Genome","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":[0.0002235039,0.0001040145,0.0001811296,0.0000761655,0.00002900019,0.000002294999,0.0001447923,0.00008467113,0.0002601829],"category_scores_gemma":[0.0001320733,0.00007657345,0.0000341705,0.00005822421,0.0001295083,0.000002673788,0.00005014682,0.00004043999,0.00001569022],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004994374,"about_ca_system_score_gemma":0.0001317481,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004652888,"about_ca_topic_score_gemma":0.0000300245,"domain_scores_codex":[0.9991602,0.00003887828,0.0003537943,0.0001749239,0.00006842997,0.0002037517],"domain_scores_gemma":[0.9995051,0.0000352653,0.0001149219,0.000239409,0.00003989004,0.00006542617],"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":[0.00002648452,0.00002672658,0.09905057,0.00001822043,0.00002406215,0.000005479297,0.0003801314,0.00000788635,0.8986642,0.0005452976,0.00006268179,0.001188214],"study_design_scores_gemma":[0.001352835,0.0002191012,0.9631147,0.00005252978,0.00002560549,0.00003966612,0.0001863234,0.000006208063,0.02006355,0.0007488387,0.01404451,0.0001461791],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939883,0.0002375687,0.003004871,0.001193296,0.0001123425,0.0001068885,0.00005352811,0.000005356091,0.001297849],"genre_scores_gemma":[0.9971928,0.000259616,0.0005231493,0.0002013689,0.00018518,0.00001543244,0.00008677291,0.00001466171,0.00152101],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8786007,"threshold_uncertainty_score":0.3122575,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008690152974202966,"score_gpt":0.2256487927908706,"score_spread":0.2169586398166676,"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."}}