Article

DNA shape and epigenomics distinguish the mechanistic origin of human genomic structural variations

2025-09-21

Abstract excerpt

The recent advent of long-read whole genome sequencing has enabled us to create an accurate telomere-to-telomere reference genome, construct pangenome graphs, and compile precise catalogs of genomic structural variations (SVs). These comprehensive SV repositories provide an excellent opportunity to explore the role of SVs in genotype-phenotype associations and examine the mechanisms by which SVs are introduced thr...

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Literature Corpus work: 7d7217ee-bab7-5164-b3ba-fdfbdd71b7ee
DOI: 10.1101/2025.09.20.677549

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