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Author

Stephanie C. Bohaczuk

3 papers indexed here

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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. · 3 citations
Open access Sep 2026

Enhancer Tuning by Sequence-Specific Repressors

It is proposed that SNAI1/2 function as a molecular dimmer switch—modulating nucleosome dynamics to calibrate enhancer output to achieve precise spatiotemporal control of transcript dosage.

Lucia Ichino, Kaelan J. Brennan, Ben Mallory et al. · 0 citations
Open access Aug 2026

A complete diploid human genome benchmark for personalized genomics

A telomere-to-telomere genome benchmark with near-perfect accuracy across 99.4% of the diploid HG002 genome is presented, expanding the reach of genomic medicine to the entire genome and enabling a new era of personalized genomics.

Nancy F. Hansen, Nathan Dwarshuis, Hyun Joo Ji et al. · 8 citations

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