category
bioRxiv
date
Mar 20, 2026
slug
status
Published
summary
提出整合纳米孔测序技术的全流程分析框架,首次实现复杂重复区域的遗传/表观遗传变异同时解析,支持大规模单倍型分析和DNA甲基化检测
tags
测序技术
type
Post
📄 原文题目
ECHO: a nanopore sequencing-based workflow for (epi)genetic profiling of the human repeatome
🔗 原文链接
💡 AI 核心解读
提出整合纳米孔测序技术的全流程分析框架,首次实现复杂重复区域的遗传/表观遗传变异同时解析,支持大规模单倍型分析和DNA甲基化检测
📝 英文原版摘要
The human genome is dominated by repetitive DNA, whose genetic and epigenetic variation plays a key role in gene regulation, genome stability, and disease. Recent advances in long-read sequencing now enable large-scale, haplotype-resolved, and DNA methylation-informative analysis of the human genome, including on previously inaccessible complex and repetitive regions. However, the comprehensive, simultaneous characterisation of the "human repeatome" remains challenging, largely due to the lack of comprehensive tools integrated in a single pipeline that can capture the full spectrum of variation across diverse types of DNA repeats. Here, we present ECHO, a user-friendly, Snakemake-based pipeline for the "(Epi)genomic Characterisation of Human Repetitive Elements using Oxford Nanopore Sequencing". ECHO provides a reproducible and scalable framework for end-to-end analysis of whole-genome nanopore sequencing data, enabling integrative but also tailored (epi)genetic analyses of the human repeatome
- 作者:NotionNext
- 链接:https://tangly1024.com/article/32948bd6-1f96-8136-a9bb-fc0ff78018d4
- 声明:本文采用 CC BY-NC-SA 4.0 许可协议,转载请注明出处。
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