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Author

C. D. Frazar

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2 papers indexed here

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Open access Oct 2026

Comprehensive benchmarking of somatic mutation detection by the SMaHT Network.

Somatic mosaicism is increasingly recognized as a fundamental feature of human biology, yet the detection of somatic mutations remains challenging. The Somatic Mosaicism across Human Tissues (SMaHT) Network conducted large-scale benchmarking experiments involving cell lines and donor tissues to evaluate sequencing tech...

A. Abyzov, Abhiram Natu, Adam Voshall et al. · 1 citation
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

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