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Biol."],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Inference of population structure is crucial for studies of human evolutionary history and genome\u2010wide association studies. While several genomic regions have been reported to distort population structure analysis of European populations, no systematic analysis has been performed on non\u2010European continental groups and with the latest human genome assembly.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using the 1000 Genomes Project high coverage whole\u2010genome sequencing data from four major continental groups (Europe, East Asia, South Asia, and Africa), we developed a statistical framework and systematically detected genomic regions with unusual contributions to the inference of population structure for each of the continental groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified and characterized 27 unusual genomic regions mapped to GRCh38, including 13 regions around centromeres, 2 with chromosomal inversions, 8 under natural selection, and 4 with unknown causes. Excluding these regions would result in a more interpretable population structure inferred by principal components analysis and ADMIXTURE analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Unusual genomic patterns in certain regions can distort the inference of population structure. Our compiled list of these unusual regions will be useful for many population\u2010genetic studies, including those from non\u2010European populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Availability<\/jats:title><jats:p>The code to reproduce our results is available at the website of Github (\/dwuab\/UnRegFinder).<\/jats:p><\/jats:sec>","DOI":"10.15302\/j-qb-022-0303","type":"journal-article","created":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T01:40:11Z","timestamp":1653961211000},"page":"287-298","source":"Crossref","is-referenced-by-count":3,"title":["Identification of genomic regions distorting population structure inference in diverse continental groups"],"prefix":"10.1002","volume":"10","author":[{"given":"Qiuxuan","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Epidemiology and Biostatistics Ministry of Education Key Laboratory of Environment and Health and State Key Laboratory of Environmental Health (Incubating) School of Public Health Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Degang","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics Ministry of Education Key Laboratory of Environment and Health and State Key Laboratory of Environmental Health (Incubating) School of Public Health Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaolong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics Ministry of Education Key Laboratory of Environment and Health and State Key Laboratory of Environmental Health (Incubating) School of Public Health Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1078311"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002886"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.09.019"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1337"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2813"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.012"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2924"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010019\u20101310\u20104"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010021\u201000852\u20109"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.108.098863"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0020190"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.04.018"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/164.4.1567"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.094052.109"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2285"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature06742"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/520769"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.12.022"},{"key":"e_1_2_8_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/msaa053"},{"key":"e_1_2_8_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.06.005"},{"key":"e_1_2_8_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/bies.201300014"},{"key":"e_1_2_8_24_2","doi-asserted-by":"crossref","unstructured":"Byrska\u2010Bishop M. 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