{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000190227,0.0002201703,0.000360528,0.0001579171,0.0001300035,0.000131375,0.0005925446,0.0001373816,0.0002251218],"category_scores_gemma":[0.0009794222,0.0002178724,0.00007953581,0.001059414,0.0003605368,0.0006181695,0.0003491038,0.0004955321,0.0001408716],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000598248,"about_ca_system_score_gemma":0.0002855919,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001624733,"about_ca_topic_score_gemma":0.00005049014,"domain_scores_codex":[0.9971237,0.0003047476,0.0007796594,0.0007137568,0.000506745,0.0005713594],"domain_scores_gemma":[0.9988717,0.000368901,0.0002068058,0.0003700225,0.000004039592,0.0001785712],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0002074934,0.0001191037,0.006759566,0.00008486494,0.000009022143,0.00008300287,0.002268067,0.0002653174,0.9196108,0.06933314,0.0000477391,0.001211902],"study_design_scores_gemma":[0.002886423,0.001919409,0.05520989,0.0000847428,0.00002490497,0.00004060427,0.000439492,0.01667902,0.3539467,0.5610899,0.006701289,0.0009776067],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9324725,0.0008922854,0.01963153,0.0434925,0.0002049929,0.0008205173,0.0001364205,0.0002838362,0.002065435],"genre_scores_gemma":[0.9974738,0.00008586112,0.001318934,0.0007725334,0.00003901077,0.00001986772,0.000007168514,0.0000522719,0.000230574],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5656641,"threshold_uncertainty_score":0.888458,"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."}}