{"id":"W4298847977","doi":"10.17615/hmn0-qq55","title":"Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing","year":2020,"lang":"en","type":"article","venue":"UNC Libraries","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National High-tech Research and Development Program; Canadian Institutes of Health Research; National Institute of Mental Health; Hospital for Sick Children; Government of Jiangxi Province; Government of Ontario; National Natural Science Foundation of China; Sick Kids Foundation; National Institutes of Health; Ontario Genomics; Genome Canada; Ontario Genomics Institute; Sanofi; National Key Research and Development Program of China; Autism Speaks; University of Toronto; GlaxoSmithKline","keywords":"Whole genome sequencing; Autism spectrum disorder; Genetics; Biology; Computational biology; Heritability of autism; Genome; DNA sequencing; Autism; Psychology; Gene; Psychiatry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007286026,0.0005036595,0.0004608476,0.001278574,0.0002433625,0.0004420688,0.0002434113,0.0004989454,0.0009723007],"category_scores_gemma":[0.002023162,0.0002013254,0.0004638934,0.0007172074,0.000255982,0.0001838491,0.000494172,0.0003174924,0.0003231545],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001379374,"about_ca_system_score_gemma":0.0001840185,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001460501,"about_ca_topic_score_gemma":0.003310426,"domain_scores_codex":[0.9995565,0.00009888197,0.00005902339,0.0001563808,0.00008380935,0.00004548152],"domain_scores_gemma":[0.9994629,0.0002979354,0.00009092057,0.00005731533,0.00004860135,0.00004233445],"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":[0.0003998514,0.00007374855,0.3719173,0.0003353044,0.0005487333,0.007198969,0.0005844992,0.002844177,0.5448062,0.0005494026,0.001144779,0.0695969],"study_design_scores_gemma":[0.00002757459,0.0001510457,0.9546942,0.0000647763,0.0002371657,0.009848438,0.0002673161,0.00520101,0.02406771,0.0005979604,0.004816656,0.00002611323],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844221,0.001224462,0.01078768,0.0001157008,0.0000196119,0.00008667391,0.001813355,0.0001510323,0.001379401],"genre_scores_gemma":[0.9791588,0.0009493802,0.01596548,0.0001715627,0.00001638196,0.00007489877,0.003007766,0.00005799729,0.0005977838],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001460501,"threshold_uncertainty_score":0.003853261,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03470318691645114,"score_gpt":0.2635854829222998,"score_spread":0.2288822960058486,"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."}}