{"id":"W2124429242","doi":"10.1126/science.aab3761","title":"Global diversity, population stratification, and selection of human copy-number variation","year":2015,"lang":"en","type":"article","venue":"Science","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":378,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"H2020 European Research Council; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; National Cancer Institute; National Heart, Lung, and Blood Institute; National Center for Chronic Disease Prevention and Health Promotion; Center for Cancer Research; Ministry of Education and Science of the Russian Federation; National Science Foundation; Wellcome; Paul G. Allen Family Foundation; National Institute of Environmental Health Sciences; Simons Foundation; National Institutes of Health; U.S. Public Health Service; Howard Hughes Medical Institute; National Human Genome Research Institute; Wellcome Trust","keywords":"Biology; Copy-number variation; Evolutionary biology; Genome; Human genome; Lineage (genetic); Segmental duplication; Structural variation; Variation (astronomy); Population; Genetics; Selection (genetic algorithm); Gene duplication; Human genetic variation; Gene; Gene family","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002254209,0.00003379954,0.0000331149,0.000014344,0.0001756276,0.00002118888,0.00007426449,0.00002718726,0.000007158651],"category_scores_gemma":[0.00002950669,0.000034535,0.000007732152,0.0001449707,0.00009234577,0.00001535119,0.00009661351,0.00000973353,0.00000127526],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003312488,"about_ca_system_score_gemma":0.00007324906,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004056662,"about_ca_topic_score_gemma":0.0001275658,"domain_scores_codex":[0.999596,0.00001519821,0.00007958256,0.0001280296,0.0001181594,0.00006302461],"domain_scores_gemma":[0.9996772,0.000001026703,0.00005681978,0.00006042348,0.0001667056,0.00003782037],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000005344762,0.00001692907,0.8954052,0.000003496342,0.000003089593,2.637002e-8,0.0001908981,0.0001091189,0.09441675,0.009640871,0.0000583982,0.0001499028],"study_design_scores_gemma":[0.0001349772,0.00007502094,0.9783733,0.000001561705,0.000006031316,0.00000598084,0.000129908,0.000107934,0.01666921,0.004391358,0.00005309278,0.00005160027],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972856,0.00001022169,0.001251903,0.00002184479,0.00004573681,0.00004407325,0.000006471975,0.000004022482,0.001330099],"genre_scores_gemma":[0.9991512,0.000001891443,0.0006787613,0.00001078088,0.00003141642,0.000001079165,0.00002064056,0.000001056451,0.000103138],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08296815,"threshold_uncertainty_score":0.1408297,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01676149740675137,"score_gpt":0.2699350436587402,"score_spread":0.2531735462519888,"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."}}