{"id":"W3000233062","doi":"10.1101/2020.01.14.20017426","title":"A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants","year":2020,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Université de Montréal; SickKids Foundation; University of Toronto; University Health Network; Toronto General Hospital; Centre Hospitalier Universitaire Sainte-Justine; Centre for Addiction and Mental Health","funders":"European Cooperation in Science and Technology; Ontario Genomics Institute; Waterloo Foundation; Health Research Board; Wellcome Trust; Fondation Brain Canada; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Ontario Genomics; Genome Canada; Simons Foundation; Medical Research Council; Cardiff University; International Seafood Sustainability Foundation; Simons Foundation Autism Research Initiative; Autism Speaks; Canadian Institutes of Health Research; National Science Foundation","keywords":"Autism; Copy-number variation; Heritability of autism; Gene duplication; Autism spectrum disorder; Genetics; Phenotype; Genetic heterogeneity; Psychology; Genotype; Trait; Biology; Psychiatry; 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":[0.001676265,0.0005095328,0.0004769088,0.00426087,0.0004422427,0.0006532469,0.0004532311,0.0004912731,0.001749154],"category_scores_gemma":[0.006446493,0.0002229199,0.0005207227,0.001308924,0.0006162775,0.0005178516,0.001139037,0.0004712,0.0002572271],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004184248,"about_ca_system_score_gemma":0.000359653,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00310243,"about_ca_topic_score_gemma":0.003553791,"domain_scores_codex":[0.9987149,0.0005607667,0.0001088538,0.0003142028,0.0002000368,0.0001012471],"domain_scores_gemma":[0.9978631,0.0009277221,0.0005758164,0.0002177796,0.0002334926,0.0001820443],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004323668,0.00006473727,0.9767556,0.0000439064,0.0002405256,0.0009475425,0.0007336947,0.000396541,0.01284008,0.0002721453,0.0002946855,0.006978034],"study_design_scores_gemma":[0.0000291148,0.00055551,0.9913418,0.00001147835,0.00007645634,0.00312918,0.0005864712,0.001343059,0.002027418,0.0003942241,0.0004875193,0.00001781515],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972103,0.0001891524,0.001426396,0.0000696857,0.000007835717,0.00003660245,0.0004671978,0.00001912566,0.0005736463],"genre_scores_gemma":[0.9980922,0.0000336349,0.001330306,0.0000364626,0.00001122974,0.00004347283,0.0002945692,0.00000856551,0.0001495558],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00426087,"threshold_uncertainty_score":0.008864999,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02815596379312407,"score_gpt":0.2789419618703443,"score_spread":0.2507859980772202,"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."}}