{"id":"W4281287618","doi":"10.1101/2022.05.05.22274031","title":"Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Centre for Addiction and Mental Health; Izaak Walton Killam Health Centre; Dalhousie University; McMaster University; 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; Hospital for Sick Children; Genome British Columbia; BC Children's Hospital; Canadian Open Neuroscience Platform; Children's Hospital Foundation; National Institutes of Health; Ontario Genomics; Stollery Children’s Hospital Foundation; Fonds National de la Recherche Luxembourg; Fondation Brain Canada; Genome Canada; Simons Foundation; Simons Foundation Autism Research Initiative; Government of Ontario; University of Toronto; Autism Speaks","keywords":"Autism spectrum disorder; Genetics; Autism; Whole genome sequencing; Exome sequencing; Genetic architecture; Biology; Computational biology; Genome; Gene; Genomics; Copy-number variation; Mutation; Phenotype; Medicine","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":[0.0006593472,0.0003116959,0.0005013288,0.002965506,0.0003997813,0.0006994355,0.0002408724,0.0002723848,0.00232362],"category_scores_gemma":[0.001642357,0.0001496972,0.000552076,0.002217377,0.0002359859,0.0001827307,0.000782066,0.0003240751,0.0006358387],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002652255,"about_ca_system_score_gemma":0.000525362,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003445043,"about_ca_topic_score_gemma":0.007424376,"domain_scores_codex":[0.9993258,0.00009764648,0.00006909172,0.000313174,0.0001338202,0.00006055427],"domain_scores_gemma":[0.9993052,0.0002781829,0.0001418439,0.00009519826,0.0001014441,0.00007794867],"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":[0.001446106,0.0001075679,0.4157908,0.001427561,0.001541103,0.003533139,0.001452008,0.008878994,0.4415515,0.00290662,0.0081635,0.1132012],"study_design_scores_gemma":[0.00004558972,0.00009871754,0.9688761,0.0001275095,0.0004952009,0.001472582,0.0002599648,0.0059269,0.006061426,0.002053064,0.01454504,0.00003783073],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9535206,0.002162655,0.01549276,0.0001715389,0.0000328609,0.00008447924,0.02421801,0.0005961185,0.003720993],"genre_scores_gemma":[0.9160453,0.0009066525,0.01735049,0.0001364025,0.00002469295,0.0001229414,0.06443096,0.0001831024,0.0007994373],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003445043,"threshold_uncertainty_score":0.00777328,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04752419080632115,"score_gpt":0.3043573402019942,"score_spread":0.2568331493956731,"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."}}