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A Telomere-to-Telomere Diploid Reference Genome and Centromere Structure of the Chinese Quartet

2025-04-03

Abstract excerpt

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-covera...

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Literature Corpus work
2311a7c3-34c1-5f02-a051-a0680b21dfe9
DOI
10.1101/2025.03.30.646227
Open publication

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