{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T23:47:38Z","timestamp":1776124058742,"version":"3.50.1"},"reference-count":59,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T00:00:00Z","timestamp":1764201600000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"publisher","award":["2023YFF0613300"],"award-info":[{"award-number":["2023YFF0613300"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"publisher","award":["2022YFC3400300"],"award-info":[{"award-number":["2022YFC3400300"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32200510"],"award-info":[{"award-number":["32200510"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32400509"],"award-info":[{"award-number":["32400509"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32125009"],"award-info":[{"award-number":["32125009"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32422019"],"award-info":[{"award-number":["32422019"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["62172325"],"award-info":[{"award-number":["62172325"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007128","name":"Natural Science Foundation of Shaanxi Province","doi-asserted-by":"publisher","award":["2024JC-JCQN-28"],"award-info":[{"award-number":["2024JC-JCQN-28"]}],"id":[{"id":"10.13039\/501100007128","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012226","name":"Fundamental Research Funds for the Central Universities","doi-asserted-by":"publisher","award":["xzy012024088"],"award-info":[{"award-number":["xzy012024088"]}],"id":[{"id":"10.13039\/501100012226","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Scientific Research Program of Shaanxi Provincial Department of Education","award":["23JK0290"],"award-info":[{"award-number":["23JK0290"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Recent advances in sequencing technologies have enabled the complete assembly of human genomes from telomere to telomere (T2T), resolving previously inaccessible regions such as centromeres and segmental duplications. Here, we present an updated, higher-quality, haplotype-phased T2T assembly of the Chinese Quartet (T2T-CQ), a family cohort comprising monozygotic twins and their parents, generated using high-coverage Oxford Nanopore Technologies (ONT) ultralong and PacBio high-fidelity (HiFi) sequencing. The T2T-CQ assembly serves as a crucial reference genome for integrating publicly available multi-omics data and advances the utility of the Quartet reference materials. The T2T-CQ assembly scores highly on multiple metrics of continuity and completeness, with Genome Continuity Inspector (GCI) scores of 77.76 (maternal) and 76.41 (paternal), 21-mer quality values (QVs) &amp;gt; 66, and Clipping Reveals Assembly Quality (CRAQ) scores &amp;gt; 99.6 for both haplotypes, enabling complete annotation of centromeric regions. Within these regions, we identified novel 13-mer higher-order repeat patterns on chromosome 17 which exhibited a monophyletic origin and emerged approximately 230 thousand years ago. Overall, this work establishes an essential genomic resource for the Han Chinese population and advances the development of a T2T pan-Chinese reference genome, which will significantly enable future investigations both into population-specific structural variants and the evolutionary dynamics of centromeres.<\/jats:p>","DOI":"10.1093\/gpbjnl\/qzaf118","type":"journal-article","created":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T03:56:38Z","timestamp":1764215798000},"source":"Crossref","is-referenced-by-count":1,"title":["A Telomere-to-telomere Diploid Reference Genome and Centromere Structure of the Chinese Quartet"],"prefix":"10.1093","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9041-878X","authenticated-orcid":false,"given":"Bo","family":"Wang (\u738b\u535a)","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":"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\/0000-0002-3429-919X","authenticated-orcid":false,"given":"Peng","family":"Jia (\u8d3e\u9e4f)","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Center for Mathematical Medical, The First Affiliated Hospital of Xi\u2019an Jiaotong University , Xi\u2019an 710061,","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\/0009-0003-1935-1249","authenticated-orcid":false,"given":"Xia","family":"Wang (\u738b\u971e)","sequence":"additional","affiliation":[{"name":"Center for Advanced Measurement of Science, National Institute of Metrology , Beijing 100029,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0863-0878","authenticated-orcid":false,"given":"Yi","family":"Yang (\u6768\u6021)","sequence":"additional","affiliation":[{"name":"Center for Advanced Measurement of Science, National Institute of Metrology , Beijing 100029,","place":["China"]},{"name":"Shenzhen Institute for Technology Innovation, National Institute of Metrology , Shenzhen 518107,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8807-6389","authenticated-orcid":false,"given":"Yu","family":"Zhang (\u5f20\u745c)","sequence":"additional","affiliation":[{"name":"Center for Advanced Measurement of Science, National Institute of Metrology , Beijing 100029,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0834-892X","authenticated-orcid":false,"given":"Shijie","family":"Wan (\u4e07\u4e16\u6770)","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"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5118-7755","authenticated-orcid":false,"given":"Xiaofei","family":"Yang (\u6768\u6653\u98de)","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"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8696-4983","authenticated-orcid":false,"given":"Pengyu","family":"Zhang (\u5f20\u9e4f\u5b87)","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\/0000-0003-4480-8303","authenticated-orcid":false,"given":"Yuanting","family":"Zheng (\u90d1\u5a9b\u5a77)","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering, Human Phenome Institute and School of Life Sciences, Fudan University , Shanghai 200438,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2981-4150","authenticated-orcid":false,"given":"Leming","family":"Shi (\u77f3\u4e50\u660e)","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Genetic Engineering, Human Phenome Institute and School of Life Sciences, Fudan University , Shanghai 200438,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8609-9552","authenticated-orcid":false,"given":"Lianhua","family":"Dong (\u8463\u83b2\u534e)","sequence":"additional","affiliation":[{"name":"Center for Advanced Measurement of Science, National Institute of Metrology , Beijing 100029,","place":["China"]},{"name":"Shenzhen Institute for Technology Innovation, National Institute of Metrology , Shenzhen 518107,","place":["China"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2851-6741","authenticated-orcid":false,"given":"Kai","family":"Ye (\u53f6\u51ef)","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":"Department of Gynecology and Obstetrics, Center for Mathematical Medical, The First Affiliated Hospital of Xi\u2019an Jiaotong University , Xi\u2019an 710061,","place":["China"]},{"name":"Faculty of Science, Leiden University , 2311 EZ, Leiden,","place":["The 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