{"id":"W2110374888","doi":"10.1038/nature09146","title":"Functional impact of global rare copy number variation in autism spectrum disorders","year":2010,"lang":"en","type":"article","venue":"Nature","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2050,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta; McMaster University; McGill University; Centre for Addiction and Mental Health; Memorial University of Newfoundland; Dalhousie University; University of Toronto; SickKids Foundation; Holland Bloorview Kids Rehabilitation Hospital; Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Cancer Institute; National Institute on Drug Abuse; Ontario Ministry of Research and Innovation; National Center for Advancing Translational Sciences; Medical Research Council; Canadian Institutes of Health Research; National Institutes of Health; Assistance publique-Hôpitaux de Paris; Fondation de France; Hospital for Sick Children; Ministero della Salute; National Institute of Mental Health; Fondation pour la Recherche Médicale; Institut National de la Santé et de la Recherche Médicale; Autism Speaks; Sick Kids Foundation; Ontario Genomics Institute; Ontario Genomics; Fondation FondaMental; Koninklijke Nederlandse Akademie van Wetenschappen; Hussman Foundation; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; Genome Canada; National Human Genome Research Institute; Fondation Orange; National Institute of Neurological Disorders and Stroke; Canadian Institute for Advanced Research; Health Research Board; Deutsche Forschungsgemeinschaft; GlaxoSmithKline; Ontario Innovation Trust; University of Toronto","keywords":"Copy-number variation; Autism; Genetics; Biology; Genome; Heritability of autism; Gene; Autism spectrum disorder; Phenotype; Psychology; Developmental psychology","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":[0.0002780933,0.0005066364,0.0004331116,0.0009145401,0.0001699303,0.0003662451,0.0002817054,0.0003211189,0.002998618],"category_scores_gemma":[0.0008943531,0.0001510895,0.0003296976,0.000307903,0.0004213901,0.0002156391,0.0003623117,0.0003031979,0.0002071836],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001674794,"about_ca_system_score_gemma":0.0001605317,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001057905,"about_ca_topic_score_gemma":0.001086864,"domain_scores_codex":[0.999788,0.00004459888,0.00002043008,0.00006010194,0.00006178157,0.00002520522],"domain_scores_gemma":[0.9995462,0.0002301686,0.00008261482,0.00004453149,0.00003225157,0.00006415802],"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":[0.001865346,0.00005182492,0.08517861,0.0001496469,0.0004397181,0.004916969,0.0001103084,0.00345419,0.873326,0.001863969,0.000426968,0.0282164],"study_design_scores_gemma":[0.00007915589,0.0005172029,0.8628308,0.00003496193,0.0007500464,0.01521853,0.0001947715,0.005723793,0.1081243,0.003472336,0.003002789,0.00005114628],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947753,0.001493951,0.00119926,0.0002338142,0.00003162017,0.000002583099,0.0005928169,0.00006250021,0.00160815],"genre_scores_gemma":[0.9986398,0.0003241114,0.0004037615,0.00004002385,0.00002399145,0.000002558546,0.0001933245,0.00002029567,0.0003519797],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002998618,"threshold_uncertainty_score":0.0100314,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002386220040613943,"score_gpt":0.2313177689113604,"score_spread":0.2289315488707464,"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."}}