Structural variation in repeat elements is widespread in normal human tissues and in tumorigenesis
Akshaya Vijaya Annapragada, James White, Hope Orjuela, Adrianna L. Bartolomucci, Alice C. Eastman, Shashikant Koul, Kauí Patrício Lebarbenchon, Daniel C. Bruhm, Sarah Short, Keerti Boyapati, Noushin Niknafs, Carter Norton, Vishruth Girish, Nicholas A. Vulpescu, Sofia Velculescu, , Victor E. Velculescu
The paper identifies widespread mosaic structural variants in normal human tissues and tumors, with repeat-mediated variants impacting functional elements and enabling noninvasive tumor monitoring through cell-free DNA.
bioRxiv · Sep 28, 2026 · PreprintGenomics