{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000397874,0.000119485,0.0003056827,0.001342287,0.000197517,0.0003464179,0.0001400597,0.0001518218,0.001141119],"category_scores_gemma":[0.001189618,0.00009636432,0.0001662463,0.0009086957,0.0005096816,0.0002807383,0.0003989118,0.000185801,0.00009430178],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000180119,"about_ca_system_score_gemma":0.00008815409,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009922298,"about_ca_topic_score_gemma":0.00205056,"domain_scores_codex":[0.9997583,0.00005089288,0.00001477168,0.0001080506,0.00003604794,0.00003200967],"domain_scores_gemma":[0.9995514,0.0002026278,0.0001004616,0.00006306441,0.00003568812,0.00004677454],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003253513,0.00001495562,0.9060403,0.00004873923,0.0002988697,0.0003282249,0.0008118226,0.001054197,0.06848902,0.0007571797,0.00007607724,0.02175522],"study_design_scores_gemma":[0.000004850558,0.00005787025,0.9961385,0.000004546442,0.0000365951,0.0005273686,0.0001237005,0.0005268599,0.001501657,0.0007732185,0.0002981703,0.000006545153],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986069,0.0002230864,0.0005938077,0.0000133507,9.437285e-7,0.000003762895,0.0001013489,0.000004909238,0.0004519375],"genre_scores_gemma":[0.9994659,0.00009682083,0.000225602,0.000005666561,0.000003032695,0.000002852077,0.0001160354,0.000002145656,0.00008203727],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001342287,"threshold_uncertainty_score":0.003817439,"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."}}