Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions
Taralynn Mack, Jiadong Lin, Luyao Ren, Min-Hwan Sohn, Anna Minkina, Youngjun Kwon, DongAhn Yoo, Yang Sui, Katherine M. Munson, Kendra Hoekzema, Francesco Kumara Mastrorosa, Melanie Sorensen, Marcelo Ayllon, Kaitlyn A. Sun, Nidhi Koundiya, , Evan E. Eichler
This study benchmarks donor-specific assemblies for improved detection of somatic structural variants in a melanoma cell line, finding they identify more variants, especially in repeat-rich regions.
bioRxiv · Feb 20, 2026 · PreprintGenomics