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November 7, 2025  |  Human genetics research

A telomere-to-telomere map of somatic mutation burden and functional impact in cancer

Authors: Min-Hwan Sohn, Danilo Dubocanin, Mitchell R Vollger, Youngjun Kwon, Anna Minkina, Katherine M Munson, Samuel FM Hart, Jane E Ranchalis, Nancy L Parmalee, Adriana E Sedeño-Cortés, Jeffrey Ou, Natalie YT Au, Stephanie Bohaczuk, Brianne Carroll, Christian D Frazar, William T Harvey, Kendra Hoekzema, Meng-Fan Huang, Caitlin N Jacques, Dana M Jensen, J Thomas Kolar, Rosa Lee, Jiadong Lin, Kelsey Loy, Taralynn Mack, Yizi Mao, Meranda M Pham, Erica Ryke, Joshua D Smith, Lila Sutherlin, Elliott G Swanson, Jeffrey M Weiss, SMaHT Assembly WG, Claudia Carvalho, Tim HH Coorens, Kelley Harris, Chia-Lin Wei, Evan E Eichler, Nicolas Altemose, James T Bennett, Andrew B Stergachis

Oncogenesis involves widespread genetic and epigenetic alterations, yet the full spectrum of somatic variation genome-wide remains unresolved. These findings define the full landscape of a cancer’s somatic variation and their functional impact, establishing a blueprint for T2T studies of mosaicism.

Journal: bioRxiv
DOI: 10.1101/2025.10.10.681725
Year: 2025

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