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.

Mosaic mutations in normal tissues occur at low variant allele fractions (VAFs), complicating detection. To benchmark variant-calling strategies, the SMaHT Network created a cell-line mixture (1:49) and produced ultra-deep short- and long-read whole-genome sequencing data across five centers (170×-470× per center). We...

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 · 0 citations