{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T10:52:44Z","timestamp":1776163964214,"version":"3.50.1"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T00:00:00Z","timestamp":1729209600000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>High-fidelity (HiFi) sequencing has facilitated the assembly and analysis of the most repetitive region of the genome, the centromere. Nevertheless, our current understanding of human centromeres is based on a relatively small number of telomere-to-telomere assemblies, which have not yet captured its full diversity. In this study, we investigated the genomic diversity of human centromere higher order repeats (HORs) via both HiFi reads and haplotype-resolved assemblies from hundreds of samples drawn from ongoing pangenome-sequencing projects and reprocessed them via a novel HOR annotation pipeline, HiCAT-human. We used this wealth of data to provide a global survey of the centromeric HOR landscape; in particular, we found that 23 HORs presented significant copy number variability between populations. We detected three centromere genotypes with unbalanced population frequencies on chromosomes 5, 8, and 17. An inter-assembly comparison of HOR loci further revealed that while HOR array structures are diverse, they nevertheless tend to form a number of specific landscapes, each exhibiting different levels of HOR subunit expansion and possibly reflecting a cyclical evolutionary transition from homogeneous to nested structures and back.<\/jats:p>","DOI":"10.1093\/gpbjnl\/qzae071","type":"journal-article","created":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T12:41:24Z","timestamp":1729255284000},"source":"Crossref","is-referenced-by-count":4,"title":["Centromere Landscapes Resolved from Hundreds of Human Genomes"],"prefix":"10.1093","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3810-6527","authenticated-orcid":false,"given":"Shenghan","family":"Gao","sequence":"first","affiliation":[{"name":"School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]},{"name":"School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]},{"name":"MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1300-291X","authenticated-orcid":false,"given":"Yimeng","family":"Zhang","sequence":"additional","affiliation":[{"name":"School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]},{"name":"MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9341-2562","authenticated-orcid":false,"given":"Stephen J","family":"Bush","sequence":"additional","affiliation":[{"name":"School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9041-878X","authenticated-orcid":false,"given":"Bo","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]},{"name":"MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5118-7755","authenticated-orcid":false,"given":"Xiaofei","family":"Yang","sequence":"additional","affiliation":[{"name":"School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]},{"name":"MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2851-6741","authenticated-orcid":false,"given":"Kai","family":"Ye","sequence":"additional","affiliation":[{"name":"School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]},{"name":"MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]},{"name":"Center for Mathematical Medical, The First Affiliated Hospital, Xi\u2019an Jiaotong University , Xi\u2019an 710061,","place":["China"]},{"name":"School of Life Science and Technology, Xi\u2019an Jiaotong University , Xi\u2019an 710049,","place":["China"]},{"name":"Faculty of Science, Leiden University , Leiden 2311 EZ,","place":["The Netherlands"]}]}],"member":"286","published-online":{"date-parts":[[2024,10,18]]},"reference":[{"key":"2024121804360531200_qzae071-B1","doi-asserted-by":"crossref","first-page":"4340","DOI":"10.1038\/s41467-018-06545-y","article-title":"The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA","volume":"9","author":"Barra","year":"2018","journal-title":"Nat Commun"},{"key":"2024121804360531200_qzae071-B2","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1126\/science.abj6987","article-title":"The complete 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