Chimera-suppressing error-corrected sequencing enables quantitative detection of rare somatic structural-variant breakpoints in human cells
Elizabeth Pan, Shixiang Sun, Johanna Heid, Zhenqiu Huang, Moonsook Lee, Gordon Fan-Huang, Xiao Dong, Cristina Montagna, Jan Vijg, Alexander Y. Maslov
This paper introduces SMM-SV-seq, a method to detect rare somatic structural-variant breakpoints in bulk DNA with high precision and recall, validated using human and Drosophila DNA mixtures and clinical treatments.
bioRxiv · Aug 8, 2024 · PreprintGenomics