Article

ECHO: a nanopore sequencing-based workflow for (epi)genetic profiling of the human repeatome

2026-03-20

Abstract excerpt

<h4>Summary</h4> 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,...

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Literature Corpus work: 2a721acd-c9ef-58f2-bfba-4bf929051486
DOI: 10.64898/2026.03.18.712618

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