{"id":"W3012544182","doi":"10.1101/2020.03.09.979815","title":"Effects-sizes of deletions and duplications on autism risk across the genome","year":2020,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal; Centre Hospitalier Universitaire Sainte-Justine; HEC Montréal; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; McGill University; Université de Montréal; Hospital for Sick Children; Montreal Neurological Institute and Hospital; SickKids Foundation; University of Toronto; Holland Bloorview Kids Rehabilitation Hospital; Jewish General Hospital","funders":"HEC Montréal; Institut de Valorisation des Données; Child Mind Institute; University of Toronto; Autism Speaks; European Federation of Pharmaceutical Industries and Associations; Canadian Institutes of Health Research; Innovative Medicines Initiative; National Science Foundation; Compute Canada; Wellcome Trust; European Commission; Fondation Brain Canada; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Hospital for Sick Children; Heart and Stroke Foundation of Canada; Simons Foundation Autism Research Initiative","keywords":"Autism; Copy-number variation; Intelligence quotient; Cognition; Affect (linguistics); Neurodevelopmental disorder; Psychology; Autism spectrum disorder; Genetics; Developmental psychology; Genome; Biology; Gene; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.009928498,0.001356406,0.001005111,0.002246922,0.0005304986,0.001215709,0.001081708,0.0009257716,0.00361965],"category_scores_gemma":[0.02165787,0.000388352,0.003418062,0.0008877711,0.001400312,0.0007402005,0.001528292,0.001052228,0.0002153012],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007538157,"about_ca_system_score_gemma":0.0004911721,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01013329,"about_ca_topic_score_gemma":0.00475337,"domain_scores_codex":[0.9913304,0.004979779,0.0002994794,0.002705815,0.0004656138,0.0002188937],"domain_scores_gemma":[0.9689505,0.02694606,0.001859474,0.001302755,0.0003900749,0.0005511927],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002620702,0.0001409957,0.9264205,0.000131838,0.01094154,0.0008191587,0.0003319056,0.03094868,0.01070296,0.001729656,0.0003549798,0.01485719],"study_design_scores_gemma":[0.0002014064,0.001308745,0.8880947,0.00005328681,0.004264458,0.0009778319,0.0003409471,0.09643763,0.002291132,0.005204498,0.0007468196,0.00007863858],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9870974,0.0006794783,0.009886154,0.0003052074,0.00001823746,0.00004080721,0.001068128,0.0001322117,0.0007724881],"genre_scores_gemma":[0.997377,0.0001066772,0.001894505,0.00003426698,0.00001074391,0.00003640465,0.0003752284,0.00002501683,0.0001401441],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01013329,"threshold_uncertainty_score":0.05250752,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007204257411677946,"score_gpt":0.2112417360948909,"score_spread":0.204037478683213,"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."}}