{"id":"W2591909999","doi":"10.1038/nn.4524","title":"Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder","year":2017,"lang":"en","type":"article","venue":"Nature Neuroscience","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":936,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario; Memorial University of Newfoundland; Centre for Addiction and Mental Health; Children’s Health Research Institute; Izaak Walton Killam Health Centre; Holland Bloorview Kids Rehabilitation Hospital; McMaster University; University of Alberta; McGill University; Dalhousie University; SickKids Foundation; Western University; University of Toronto; Queen's University; Ontario Genomics; Public Health Ontario; Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Cancer Institute; Canadian Institutes of Health Research","keywords":"Autism spectrum disorder; Copy-number variation; Autism; Genetics; Gene; Candidate gene; Biology; Genome; Phenotype; Genome-wide association study; Single-nucleotide polymorphism; Computational biology; Genotype; Psychology; Psychiatry","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":[0.0003899985,0.0006810747,0.0008804951,0.002039199,0.0007915375,0.0007412183,0.0007543277,0.0006613381,0.007499414],"category_scores_gemma":[0.0006161022,0.0003258282,0.000831825,0.001238067,0.0002438377,0.0002653808,0.0005501327,0.0006163915,0.001496777],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004868114,"about_ca_system_score_gemma":0.0008621974,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003885421,"about_ca_topic_score_gemma":0.01192808,"domain_scores_codex":[0.9997763,0.00001348078,0.00002175011,0.00008002474,0.00006911878,0.00003943321],"domain_scores_gemma":[0.999542,0.0001812026,0.00008650866,0.0000255061,0.00005212189,0.0001127545],"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":[0.005548375,0.0005012386,0.2239166,0.001296319,0.001284824,0.0163197,0.000709876,0.002083737,0.5634183,0.0026862,0.03472709,0.1475078],"study_design_scores_gemma":[0.0008350065,0.0004864135,0.8177266,0.0003081697,0.001785994,0.01029849,0.0004728151,0.00402324,0.04606063,0.003853841,0.1140321,0.0001167927],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8943024,0.004521522,0.006602515,0.001157241,0.0002653305,0.0001358104,0.08525924,0.0006441494,0.007111766],"genre_scores_gemma":[0.831246,0.00450845,0.03031422,0.00115599,0.0002122661,0.0003360063,0.1238801,0.0004918189,0.007855171],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007499414,"threshold_uncertainty_score":0.02508807,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04225817231630669,"score_gpt":0.332899370245599,"score_spread":0.2906411979292923,"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."}}