{"id":"W2116753165","doi":"10.1038/ng1416","title":"Detection of large-scale variation in the human genome","year":2004,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2910,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"","keywords":"Biology; Genome; Human genome; Genetics; Structural variation; Phenotype; Gene; Human genetic variation; Copy-number variation; Variation (astronomy); Evolutionary biology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002151797,0.0001495053,0.0002037694,0.0006281796,0.0001695735,0.0003528422,0.0001922347,0.0005551478,0.001131366],"category_scores_gemma":[0.001022875,0.0001780447,0.0001416293,0.0005843382,0.0003024407,0.0001909704,0.000313248,0.0005840301,0.0003028813],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001269856,"about_ca_system_score_gemma":0.0001194797,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005292809,"about_ca_topic_score_gemma":0.001083777,"domain_scores_codex":[0.999796,0.00003280826,0.000007336189,0.00008709544,0.00005698512,0.00001976507],"domain_scores_gemma":[0.9993663,0.000352591,0.00009952022,0.00006906528,0.00003785837,0.00007461302],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002604109,0.00005501718,0.03249406,0.0001061239,0.0001164963,0.0006599636,0.00008699161,0.0004857535,0.9358044,0.001054305,0.0006828132,0.02819373],"study_design_scores_gemma":[0.00007419875,0.0003322807,0.7042983,0.00002291614,0.0001681368,0.006414931,0.0001350436,0.003601396,0.2705646,0.003707547,0.01064482,0.0000359629],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.973531,0.003290463,0.01696111,0.0006073185,0.00008660744,0.00002857863,0.001629582,0.0002394921,0.003625877],"genre_scores_gemma":[0.9907736,0.0004791873,0.006771059,0.0002412425,0.00004644113,0.00001570876,0.0007600356,0.00003149546,0.0008813234],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001131366,"threshold_uncertainty_score":0.003784776,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004407612615571137,"score_gpt":0.2273782015011762,"score_spread":0.2229705888856051,"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."}}