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.
Utility of optical genome mapping for the chromosomal characterization of solid tumors.
Ravindra Kolhe, MD, PhD, FCAP
Optical genome mapping reveals novel structural variants in pediatric brain tumors.
Miriam Bornhorst, MD
Read about what structural variations are and why they matter.Learn More
See how OGM reveals structural variation in a way that has never been done before.Learn More
Find the latest research in our Publications Library.Learn More
|Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant||February 13, 2023||
Janine Reurink, Erik de Vrieze, Catherina H Z Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D N Astuti, Jordi Corominas Galbany, Janneke J C van Lith-Verhoeven, Charlotte W Ockeloen, Lonneke Haer-Wigman, Carel B Hoyng, Frans P M Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk
|The snapdragon genomes reveal the evolutionary dynamics of the S locus supergene||October 10, 2022||
Sihui Zhu, Yu’e Zhang, Lucy Copsey, Dongfeng Zheng, Enrico Coen, Yongbiao Xue, Qianqian Han
|Molecular and genetic mechanisms conferring dissolution of dioecy in Diospyros oleifera Cheng||October 9, 2022||
Peng Sun Jr., Soichiro Nishiyama Jr., Huawei Li Jr., Yini Mai Jr., Weijuan Han Jr., Yujing Suo Jr., Chengzhi Liang Sr., Huilong Du Jr., Songfeng Diao Jr., Yiru Wang Jr., Jiaying Yuan Jr., Yue Zhang Jr., Ryutaro Tao Sr., Fangdong Li Sr., Jianmin Fu Sr.