{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003923882,0.00008060758,0.00008843403,0.00005602141,0.00006378409,0.00002291099,0.00006229553,0.000069032,0.00004672322],"category_scores_gemma":[0.00009587609,0.00006036965,0.00003628194,0.0001039337,0.00006157161,0.000007364291,0.00005351058,0.00002066674,0.00001092361],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003939401,"about_ca_system_score_gemma":0.00015191,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002513131,"about_ca_topic_score_gemma":0.00006066266,"domain_scores_codex":[0.99906,0.00003443573,0.000287458,0.0003167673,0.0001446573,0.000156645],"domain_scores_gemma":[0.9995104,0.00001567861,0.0001477533,0.0002251077,0.00006651038,0.00003452865],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001402383,0.00005678175,0.1686318,0.00002017348,0.0000155832,0.0000291804,0.0001837199,0.00002058186,0.8294236,0.0001722794,0.0004335673,0.0009986621],"study_design_scores_gemma":[0.0002595408,0.00003648926,0.02859839,0.00005627565,0.000004356261,0.00004659804,0.0000424537,0.000002804636,0.964254,0.001018368,0.005570286,0.0001103908],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973187,0.00003919601,0.0005530882,0.00002032933,0.001146928,0.0001295625,0.000002062186,0.000004848031,0.0007853063],"genre_scores_gemma":[0.9976022,0.000008376905,0.0007727534,0.00001630811,0.0000390806,0.00001909269,0.0000351123,0.000007299686,0.001499747],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1400334,"threshold_uncertainty_score":0.2461803,"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."}}