Author

T. Mack

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Open access Oct 2026

A telomere-to-telomere map of somatic mutation burden and functional impact in a cancer.

Cancer genomes harbor extensive somatic genetic and epigenetic variation, yet large portions of the genome remain inaccessible to conventional reference-based analyses. Here, we demonstrate that pairing a near-telomere-to-telomere (near-T2T) diploid assembly of a donor with deep short- and long-read sequencing of their...

Min-Hwan Sohn, Danilo Dubocanin, M. Vollger et al. · Cell · 0 citations

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

Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes

A genomic meta-analysis of case–control studies of binge-eating behavior and analyses of anorexia nervosa and its subtypes, alongside analyses of AN, identified six BE-associated loci and eight areas that are associated with anorexia nervosa, in people of European ancestry.

Jet D. Termorshuizen, Helena L. Davies, Sang-Hyuck Lee et al. · Nature Mental Health · 1 citation