{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004810017,0.0001785119,0.0002491811,0.00002811601,0.00008667032,0.000009432923,0.0005269579,0.0001139491,0.0008456793],"category_scores_gemma":[0.00005046214,0.0001646015,0.00004122176,0.00006958056,0.00007958447,0.000008668369,0.0005213841,0.00009230292,0.0001449949],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000031342,"about_ca_system_score_gemma":0.0001106969,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000115204,"about_ca_topic_score_gemma":0.00006899752,"domain_scores_codex":[0.9985715,0.00006335144,0.0004195364,0.0004706478,0.0001567193,0.0003183095],"domain_scores_gemma":[0.9987923,0.00002646842,0.0002003427,0.0008679027,0.00004148944,0.00007151962],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002015155,0.000122885,0.1826174,0.000101443,0.0001790961,0.000001474708,0.003616529,0.0001753357,0.8052324,0.0004980365,0.006307981,0.0009458877],"study_design_scores_gemma":[0.005908773,0.0005055414,0.4810029,0.00005291381,0.00009261322,0.00005540519,0.004476495,0.0006458824,0.00745128,0.0002309427,0.498949,0.0006282675],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938156,0.0002649696,0.0009518137,0.0002650767,0.0003271486,0.0002810928,0.0003097336,0.00001122641,0.003773319],"genre_scores_gemma":[0.9943914,0.0001560833,0.0005069751,0.0003978639,0.0002826886,0.000007935614,0.001908202,0.00003163816,0.002317155],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7977811,"threshold_uncertainty_score":0.9259595,"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."}}