category
bioRxiv
date
Mar 21, 2026
slug
status
Published
summary
创新性提出仅用纳米孔测序平台即可完成二倍体基因组端粒到端粒组装,无需依赖其他测序技术;通过Pore-C技术实现无需父母信息的单倍型分型,并构建单倍型解析的3D染色质图谱;整合甲基化分析揭示印记基因位点的等位基因特异性染色质组织特征。
tags
测序技术
type
Post

📄 原文题目

Single-Platform Nanopore Sequencing Enables Diploid Telomere-to-Telomere Genome Assembly and Haplotype-Resolved 3D Chromatin Maps

🔗 原文链接

💡 AI 核心解读

创新性提出仅用纳米孔测序平台即可完成二倍体基因组端粒到端粒组装,无需依赖其他测序技术;通过Pore-C技术实现无需父母信息的单倍型分型,并构建单倍型解析的3D染色质图谱;整合甲基化分析揭示印记基因位点的等位基因特异性染色质组织特征。

📝 英文原版摘要

Telomere-to-telomere (T2T) genome assembly has transformed human genomics by resolving centromeres, segmental duplications, and other previously inaccessible regions. However, most diploid T2T assemblies rely on the combination of multi-platform sequencing strategies including short read genome sequencing, PacBio HiFi, Oxford Nanopore ultra-long reads, and chromatin conformation capture data (Hi-C), limiting both scalability and accessibility. Here, we present a streamlined Nanopore-only workflow for diploid human T2T assembly using three ultra-long and one Pore-C PromethION flow cell per individual. Across 23 genetically diverse individuals, we generated 360 gapless chromosomes and 446 near-complete T2T scaffolds, achieving median consensus accuracy of QV50 without Duplex sequencing or hybrid polishing. Assembly continuity, gene completeness, and structural variant detection were comparable to multi-platform Human Pangenome Reference Consortium assemblies. Pore-C data enabled chromosome-scale haplotype phasing without parental information and supported generation of haplotype-resolved chromatin contact maps. Integrated methylation and 3D genome analyses revealed allele-specific chromatin organization at imprinted loci and clear signatures of X-chromosome inactivation. Our openly accessible dataset expands public T2T resources and demonstrates that reference-grade diploid assemblies, phased methylomes, and 3D genome maps can be derived from a single sequencing platform. This approach reduces technical barriers and supports scalable population and functional genomics in the T2T era.
欧洲松毛虫(Diprion pini, Linnaeus, 1758)的近染色体规模基因组组装对Chen的回复:关于H3-Dendra2分布研究的方法论和分析考量
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