Author

J. Wertz

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Open access Oct 2026

Structural variants from donor-specific assemblies affect recurrent chromatin contact divergence in humans

GRAPHICAL ABSTRACT Structural variants (SVs) are a major source of human genetic diversity, yet their contribution to three-dimensional (3D) genome organization remains difficult to resolve using a standard reference genome. Here, we integrate haplotype-resolved chromatin interaction maps across 354 human and 12 nonhum...

L. Ni, Jia-Dong Lin, DongAhn Yoo et al. · bioRxiv · 0 citations

Open access Aug 2026

A high-resolution human pangenome structural variant resource for improved disease association

This work describes the full spectrum of genetic variation and shows that while 99% of the variants between any two genomes are single base-pair substitutions, 88% of the euchromatic variant base pairs are SVs, including insertions, deletions, duplications, and inversions.

J. Lin, J. Gustafson, J. Wertz et al. · medRxiv · 1 citation