{"id":"W2473990461","doi":"10.1038/srep28663","title":"Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay","year":2016,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; SickKids Foundation; University of Toronto; Mount Sinai Hospital; Centre Hospitalier Universitaire Sainte-Justine; Hospital for Sick Children","funders":"Hospital for Sick Children; Ontario Genomics Institute; Government of Ontario; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; University of Toronto; National Alliance for Research on Schizophrenia and Depression; GlaxoSmithKline","keywords":"Copy-number variation; Variation (astronomy); Genetics; Biology; Gene; Gene dosage; Computational biology; Genome; Gene expression","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":[0.0006418545,0.0005677563,0.0004858551,0.002939877,0.00033419,0.0006977245,0.0004312521,0.0004805825,0.001783621],"category_scores_gemma":[0.003257097,0.0001531188,0.0006576818,0.002669895,0.000386418,0.0004288122,0.0006359654,0.0004130906,0.0002800724],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005094334,"about_ca_system_score_gemma":0.0004146277,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004128873,"about_ca_topic_score_gemma":0.006302333,"domain_scores_codex":[0.9993132,0.00009656161,0.00004599135,0.000361591,0.0001267788,0.00005590342],"domain_scores_gemma":[0.9982374,0.001140374,0.0003153725,0.0001167939,0.00009936667,0.00009076216],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001133282,0.00008336757,0.6962222,0.0005351576,0.0009883753,0.001041404,0.0002097174,0.01549315,0.2174235,0.001277966,0.00138683,0.06420499],"study_design_scores_gemma":[0.00006689424,0.0002489695,0.9101115,0.00004097627,0.0007597847,0.001775128,0.0001567913,0.05409274,0.02309957,0.005165939,0.004430388,0.00005139889],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9761318,0.001698269,0.01173261,0.0001241866,0.000016922,0.00004160838,0.00892174,0.0002395806,0.001093315],"genre_scores_gemma":[0.9839833,0.0005509217,0.009219815,0.00005381364,0.00002312389,0.00003475232,0.005698573,0.0000480774,0.0003875007],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004128873,"threshold_uncertainty_score":0.008209705,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008421651253797693,"score_gpt":0.2150380733685153,"score_spread":0.2066164221147176,"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."}}