{"id":"W2978273148","doi":"10.1038/s41525-019-0098-3","title":"A large data resource of genomic copy number variation across neurodevelopmental disorders","year":2019,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":201,"is_retracted":false,"has_abstract":true,"ca_institutions":"Holland Bloorview Kids Rehabilitation Hospital; Toronto General Hospital; McMaster University; Children's Hospital of Eastern Ontario; McGill University; Memorial University of Newfoundland; Montreal Neurological Institute and Hospital; University of Alberta; Trillium Health Centre; Queen's University; Ontario Genomics; Credit Valley Hospital; University of Calgary; Mount Sinai Hospital; Children’s Health Research Institute; Centre for Addiction and Mental Health; Public Health Ontario; Amgen (Canada); Hamilton Health Sciences; Western University; University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"National Human Genome Research Institute; National Institute on Drug Abuse; National Cancer Institute; Autism Speaks; University of Toronto; National Institute on Alcohol Abuse and Alcoholism; National Institutes of Health; Alberta Innovates; National Institute of Mental Health; Hospital for Sick Children; Canadian Institutes of Health Research; Genome Canada; Sick Kids Foundation; GlaxoSmithKline; Government of Ontario","keywords":"Copy-number variation; Autism spectrum disorder; Autism; Etiology; Neurodevelopmental disorder; Schizophrenia (object-oriented programming); Intellectual disability; Population; Microarray; Genetics; Psychiatry; Medicine; Biology; Gene; Genome","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":[0.002606706,0.0007448324,0.001672413,0.01089883,0.0007721474,0.00134624,0.001152333,0.001039699,0.006611443],"category_scores_gemma":[0.01615864,0.0004903923,0.0007111185,0.01151922,0.00033561,0.0006918606,0.001934696,0.001081154,0.002595899],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000674346,"about_ca_system_score_gemma":0.001944565,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009026453,"about_ca_topic_score_gemma":0.01129101,"domain_scores_codex":[0.9966602,0.0004796599,0.0007075518,0.001198721,0.0007883933,0.0001654306],"domain_scores_gemma":[0.9812261,0.01026382,0.002672286,0.002572023,0.001839908,0.001425791],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001681256,0.0003297029,0.5368924,0.006120773,0.002947578,0.005197291,0.0009253981,0.005369625,0.05455823,0.003575437,0.1703048,0.2120975],"study_design_scores_gemma":[0.0003586829,0.0002716713,0.8145354,0.0006363612,0.0009708611,0.004454385,0.0004171726,0.00418992,0.01111943,0.003773738,0.1590823,0.0001900823],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.08628844,0.004337164,0.007016734,0.0004577493,0.00007341869,0.0001936019,0.8982829,0.0009388035,0.002411153],"genre_scores_gemma":[0.1310924,0.001940723,0.01431645,0.0003640307,0.0001022911,0.0008928952,0.8503228,0.0002267497,0.0007417265],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.01089883,"threshold_uncertainty_score":0.02211744,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01083133010795031,"score_gpt":0.2609984659100707,"score_spread":0.2501671358021204,"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."}}