{"id":"W1507813580","doi":"10.1038/ejhg.2011.75","title":"Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders","year":2011,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":45,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; Ontario Ministry of Research and Innovation; Medical Research Council; Canadian Institutes of Health Research; Hospital for Sick Children; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; Fondation de France; Health Research Board; National Institute for Health and Care Research; Autism Speaks; Sick Kids Foundation; Ontario Genomics Institute; Fondation Orange; National Institutes of Health; Ontario Genomics; Fondation FondaMental; Koninklijke Nederlandse Akademie van Wetenschappen; Hussman Foundation; Genome Canada; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; Deutsche Forschungsgemeinschaft; GlaxoSmithKline; Ontario Innovation Trust; University of Toronto","keywords":"Genome-wide association study; Biology; Autism; Genetics; Gene; Genetic association; Gene ontology; Single-nucleotide polymorphism; Computational biology; Biological pathway; Psychology; Genotype; Gene expression; Developmental psychology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0009823589,0.000312275,0.0005389121,0.001070712,0.0002444154,0.0000817482,0.001231279,0.00004680926,0.0001757419],"category_scores_gemma":[0.0001598806,0.0002565944,0.0002536968,0.0009686482,0.0002710954,0.00009651278,0.000183034,0.0003818352,0.00001836677],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001017669,"about_ca_system_score_gemma":0.000226028,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003742501,"about_ca_topic_score_gemma":0.001254114,"domain_scores_codex":[0.9963485,0.0008488708,0.001021432,0.0005704127,0.0004942989,0.0007164576],"domain_scores_gemma":[0.9985267,0.0002327012,0.0006470923,0.0003463542,0.00003543723,0.0002117426],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001745223,0.00549431,0.5612189,0.0002871475,0.000841721,0.001673033,0.0063126,0.01512191,0.301638,0.1018971,0.0002187762,0.003551315],"study_design_scores_gemma":[0.004410447,0.004230681,0.8540201,0.00004217985,0.0002835915,0.00004682136,0.00009066709,0.0005015098,0.09745086,0.03680435,0.001466676,0.0006521543],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9743702,0.0006978291,0.0210445,0.001368782,0.0001376363,0.0004524212,0.00002678255,0.00003572399,0.00186606],"genre_scores_gemma":[0.9931064,0.0005059238,0.005982282,0.0002188384,0.00006280308,0.000009388107,0.000005369639,0.00004988216,0.00005915442],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2928012,"threshold_uncertainty_score":0.9999886,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08239114988529213,"score_gpt":0.3197221161103393,"score_spread":0.2373309662250472,"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."}}