Identification of Somatic Structural Variants in Solid Tumors by Optical Genome Mapping

D.Y. Goldrich, B. LaBarge, S. Chartrand, L. Zhang, S.B. Sadowski, Y. Zhang, K. Pham, H. Way, C. Lai, A.W.C. Pang, B. Clifford, A.R. Hastie, M. Oldakowski, D. Goldenberg & J. Broach
Genomic structural variants comprise a significant fraction of somatic mutations driving cancer onset and progression. However, such variants are not readily revealed by standard next-generation sequencing. Optical genome mapping (OGM) surpasses short-read sequencing in detecting large (>500 bp) and complex structural variants (SVs) but requires isolation of ultra-high-molecular-weight DNA from the tissue of interest. We have successfully applied a protocol involving a paramagnetic nanobind disc to a wide range of solid tumors. Using as little...
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