{"id":"W2102941013","doi":"10.1101/gr.3677206","title":"Copy number variation: New insights in genome diversity","year":2006,"lang":"en","type":"review","venue":"Genome Research","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":870,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Ontario Genomics Institute; Wellcome Trust; Canadian Institutes of Health Research; Ontario Genomics; Leukemia and Lymphoma Society; Genome Canada; Massachusetts General Hospital; Brigham and Women's Hospital; Howard Hughes Medical Institute","keywords":"Copy-number variation; Biology; Genetics; Genome; Variation (astronomy); Structural variation; Human genetic variation; Genetic variation; Gene; Phenotype; Human genome; Gene dosage; Genomics; Computational biology; Evolutionary biology; Comparative genomic hybridization; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000673897,0.0003428126,0.0007091538,0.0003059949,0.0003842001,0.0000987992,0.0007969113,0.0005901221,0.0004442189],"category_scores_gemma":[0.00004159598,0.0003262461,0.0002734381,0.0006169807,0.00009743142,0.000008078868,0.001542545,0.0005546475,0.0006693348],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003035729,"about_ca_system_score_gemma":0.001190311,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00144512,"about_ca_topic_score_gemma":0.0003462124,"domain_scores_codex":[0.9971272,0.000489978,0.0005336875,0.0007205501,0.0004624986,0.0006660884],"domain_scores_gemma":[0.9987566,0.00004938745,0.0001381506,0.0006965863,0.0001816714,0.0001775432],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007466834,0.005262104,0.01911022,0.08403794,0.007333512,0.001445376,0.01450627,0.001274562,0.004416996,0.03309878,0.08244908,0.7463185],"study_design_scores_gemma":[0.0002686669,0.00006841707,0.0007205626,0.000166225,0.00004728709,0.00002894043,0.00003129859,4.670523e-7,0.000007319556,0.000378642,0.9979339,0.0003482853],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001052853,0.9862078,0.0001292055,0.00002641143,0.0001237115,0.0007367806,0.0001218981,0.00001220574,0.01158917],"genre_scores_gemma":[0.002704649,0.9749135,0.0003080333,0.00001500846,0.001135137,0.00006787972,0.001665958,0.00005264564,0.01913714],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9154848,"threshold_uncertainty_score":0.9999189,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08744079754405808,"score_gpt":0.362651021416473,"score_spread":0.2752102238724149,"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."}}