Author

Nancy L. Parmalee

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Open access Oct 2026

Detecting low-allele-fraction mosaic mutations: A multi-institution benchmarking with cell-line mixtures.

This work establishes a framework and best practices for reliably detecting low-VAF mutations in non-cancer tissues and provides a valuable resource for the community.

Y.-J. Ha, Dominika Maziec, J. Markowski et al. · Cell Genomics · 2 citations

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 · 3 citations