Article
A telomere-to-telomere map of somatic mutation burden and functional impact in cancer
2025-10-13
Abstract excerpt
Oncogenesis involves widespread genetic and epigenetic alterations, yet the full spectrum of somatic variation genome-wide remains unresolved. We generated a near-telomere-to-telomere (T2T) diploid assembly of a donor paired with deep short- and long-read sequencing of their melanoma. This revealed that 16% of somatic variants occur in sequences absent from GRCh38, with satellite repeats acting as hotspots for UV-...
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Identifiers and source
- Literature Corpus work
- 66bd0e8c-2875-5f61-8ee2-6ed0011d9d17
- DOI
- 10.1101/2025.10.10.681725