Structural variants (SVs) are a hallmark of cancer, yet next-generation sequencing (NGS) methods fail to detect all classes and sizes of SVs, missing a significant amount of information critical to understanding cancer biology.1-4 Studies have shown that both short-read and long-read sequencing technologies miss a significant portion of SVs detected by optical genome mapping (OGM).1,2
Combine NGS with OGM to unlock a broader spectrum of genetic variants, generate a more complete cancer genome profile, and discover new actionable biomarkers.
Study with Multiple Tumor Types Reveals SVs That Would Not Be Readily Identified by Targeted Gene Panels Generally Used to Assess Tumor Genomes:
By combining WGS and optical mapping, researchers could reconstruct the structure of complex SVs at large scale and single-base resolution in a subgroup of hepatocellular carcinoma with cyclin-induced replication stress.1
OGM Solved Cancer Predisposition Mystery in a Pediatric ATRT Case
Previous analysis using Sanger sequencing, NGS (whole exome and whole genome sequencing), and MLPA could not identify a causative variant.
OGM revealed a 2.7kb insertion in the ATRT gene.4 OGM analysis of germline DNA showing an SV call enclosing the insertion at the SMARCB1 locus.
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