{"id":"W2994386773","doi":"10.1038/s41467-019-13380-2","title":"Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders","year":2019,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Holland Bloorview Kids Rehabilitation Hospital; Izaak Walton Killam Health Centre; SickKids Foundation; University of Toronto; Dalhousie University; Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Canadian Institutes of Health Research; Kids Brain Health Network; National Institute of Mental Health; Hospital for Sick Children; University of Alberta; National Institutes of Health; Ontario Genomics; Genome Canada; Sick Kids Foundation; Simons Foundation Autism Research Initiative; Government of Ontario; Women and Children's Health Research Institute; University of Toronto; Autism Speaks; Children's Health Research Institute; Canadian Institute for Advanced Research; National Alliance for Research on Schizophrenia and Depression; GlaxoSmithKline; Simons Foundation","keywords":"Copy-number variation; Autism spectrum disorder; Autism; Sibling; Typically developing; Predictive value; Medicine; Microarray; Genetics; Biology; Psychology; Psychiatry; Gene; Developmental psychology; Genome; Internal medicine","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":[0.0004128603,0.0003078059,0.0002080846,0.0008811216,0.0003569433,0.0002682566,0.0002284171,0.0003337341,0.001630347],"category_scores_gemma":[0.003791018,0.0001603527,0.0002091597,0.0003559549,0.0002557281,0.0002263864,0.000381231,0.0002550021,0.0002380425],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002175984,"about_ca_system_score_gemma":0.0001659242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003696019,"about_ca_topic_score_gemma":0.004532509,"domain_scores_codex":[0.9996561,0.0001021511,0.00003790963,0.0001013473,0.00006941122,0.00003313718],"domain_scores_gemma":[0.9988846,0.0004730581,0.0003575768,0.00007288381,0.00008390923,0.0001279451],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001170396,0.000009627784,0.9916922,0.000005280966,0.00002101785,0.001745213,0.00008635399,0.0001627884,0.003568093,0.00003224521,0.0001122825,0.002447887],"study_design_scores_gemma":[0.000007989604,0.00009624612,0.9891965,0.000006465249,0.00002524589,0.007210743,0.0002205446,0.001160344,0.00171065,0.0001484086,0.0002094928,0.000007248315],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995244,0.00006357508,0.00007852465,0.00002527337,0.000002139492,0.000001898483,0.000104041,0.000005524928,0.0001946674],"genre_scores_gemma":[0.9996955,0.00002608652,0.0001225147,0.000007674413,0.000002462964,0.000001667964,0.00009245265,0.000002242822,0.00004934091],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003696019,"threshold_uncertainty_score":0.007349014,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004468759141863907,"score_gpt":0.2523918501982818,"score_spread":0.2479230910564179,"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."}}