{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002693222,0.0004985903,0.0007736695,0.002429703,0.000721817,0.0009752923,0.0004117138,0.0004761633,0.003597788],"category_scores_gemma":[0.0007675762,0.0003251155,0.0007054638,0.002532603,0.0003184073,0.0003440342,0.0007395944,0.0007289029,0.001637785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004114815,"about_ca_system_score_gemma":0.00115531,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007118415,"about_ca_topic_score_gemma":0.0217246,"domain_scores_codex":[0.9997782,0.00001908758,0.0000139555,0.0001067346,0.00004631035,0.00003564641],"domain_scores_gemma":[0.9995434,0.0001418193,0.00007374092,0.00005668003,0.0001210131,0.00006323187],"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":[0.001332896,0.00009191017,0.02992088,0.001714993,0.0004993022,0.00166119,0.0009165471,0.01017714,0.8584145,0.005783113,0.01363886,0.07584864],"study_design_scores_gemma":[0.0001863864,0.0004614999,0.7073553,0.0007818348,0.002023561,0.002599585,0.001111109,0.03515995,0.07768727,0.021492,0.1508953,0.0002463082],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7714545,0.01067664,0.05343778,0.001359217,0.0002329621,0.000114024,0.1458662,0.003959375,0.0128994],"genre_scores_gemma":[0.6945621,0.005525586,0.05214187,0.0005407627,0.00009539332,0.0001522781,0.2409795,0.0008926755,0.005109824],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007118415,"threshold_uncertainty_score":0.01415396,"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."}}