{"id":"W4308906825","doi":"10.1016/j.cell.2022.10.009","title":"Genomic architecture of autism from comprehensive whole-genome sequence annotation","year":2022,"lang":"en","type":"article","venue":"Cell","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":277,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta; Izaak Walton Killam Health Centre; Dalhousie University; McMaster University; Centre for Addiction and Mental Health; BC Children's Hospital; Holland Bloorview Kids Rehabilitation Hospital; Montreal Neurological Institute and Hospital; SickKids Foundation; University of Toronto; Queen's University; McGill University; Public Health Ontario; Ted Rogers Centre for Heart Research; University of British Columbia; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Qatar National Research Fund; Kids Brain Health Network; National Institute of Mental Health; Hospital for Sick Children; Fondation Brain Canada; Fonds National de la Recherche Luxembourg; Genome British Columbia; BC Children's Hospital; Children's Hospital Foundation; National Institutes of Health; Stollery Children’s Hospital Foundation; Ontario Genomics; Genome Canada; Simons Foundation Autism Research Initiative; Government of Ontario; University of Toronto; Autism Speaks","keywords":"Biology; Genetics; Autism spectrum disorder; Autism; Whole genome sequencing; Genetic architecture; Genome; Human genetics; Genomics; Heritability of autism; Population; Genome-wide association study; Computational biology; Genotype; Phenotype; Gene","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":[0.00005284588,0.0001211204,0.0001632723,0.0001378169,0.0002420493,0.0000215045,0.0005654817,0.00002905199,0.0007910358],"category_scores_gemma":[0.00002120127,0.0001342009,0.00005925164,0.0003823856,0.000162276,0.00005654299,0.0004166711,0.0004134767,0.0001658377],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000106699,"about_ca_system_score_gemma":0.0001071715,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002010761,"about_ca_topic_score_gemma":0.000005219784,"domain_scores_codex":[0.9983271,0.0002769709,0.0002000789,0.0004427795,0.0004523793,0.0003007229],"domain_scores_gemma":[0.9992222,0.0001988545,0.0001255246,0.000379773,0.000006959675,0.00006667314],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002926889,0.00006083487,0.00008689023,0.00001441963,0.000002045939,0.00003724573,0.001654331,0.004891617,0.9918658,0.0008655984,0.00003872384,0.0004532315],"study_design_scores_gemma":[0.002103682,0.0006841585,0.06391925,0.00001246176,0.00002507985,0.00005385558,0.0007084264,0.005412071,0.7012169,0.0868568,0.1382524,0.0007548493],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993116,0.0003352792,0.000394756,0.001814616,0.0001858297,0.0003516967,0.0009388108,0.00005587583,0.002807156],"genre_scores_gemma":[0.9982639,0.00002080427,0.0002124822,0.0003546125,0.00001624356,0.00003396668,0.00008277367,0.00002552893,0.0009896652],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2906488,"threshold_uncertainty_score":0.8661287,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03967597329248399,"score_gpt":0.2765797752311429,"score_spread":0.2369038019386589,"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."}}