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 MoreSee how OGM reveals structural variation in a way that has never been done before.
Learn MoreFind the latest research in our Publications Library.
Learn Moretitle | Source | Authors |
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Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia | September 21, 2023 | Brandes, Danielle; Yasin, Layal; Nebral, Karin; Ebler, Jana; Schinnerl, Dagmar; Picard, Daniel; Bergmann, Anke; Alam, Jubayer; Köhrer, Stefan; Haas, Oskar A.; Attarbaschi, Andishe; Marschall, Tobias; Stanulla, Martin; Borkhardt, Arndt; Brozou, Triantafyllia; Fischer, Ute; Wagener, Rabea |
Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation | June 12, 2023 | Pille Hallast, Peter Ebert, Mark Loftus, Feyza Yilmaz, Peter A. Audano, Glennis A. Logsdon, Marc Jan Bonder, Weichen Zhou, Wolfram Hoeps, Kwondo Kim, Chong Li, Philip C Dishuck, David Porubsky, Fotios Tsetsos, Jee Young Kwon, Qihui Zhu, Katherine M. Munson, Patrick Hasenfeld, William T. Harvey, Alexandra P. Lewis, Jennifer Kordosky, Kendra Hoekzema, The Human Genome Structural Variation Consortium (HGSVC), Jan O. Korbel, Chris Tyler-Smith, Evan E. Eichler, Xinghua Shi, Christine R Beck, Tobias Marschall, Miriam K. Konkel, Charles Lee |
Babesia duncani multi-omics identifies virulence factors and drug targets | April 13, 2023 | Pallavi Singh, Stefano Lonardi, Qihua Liang, Pratap Vydyam, Eleonora Khabirova, Tiffany Fang, Shalev Gihaz, Jose Thekkiniath, Muhammad Munshi, Steven Abel, Loic Ciampossin, Gayani Batugedara, Mohit Gupta, Xueqing Maggie Lu, Todd Lenz, Sakshar Chakravarty, Emmanuel Cornillot, Yangyang Hu, Wenxiu Ma, Luis Miguel Gonzalez, Sergio Sánchez, Karel Estrada, Alejandro Sánchez-Flores, Estrella Montero, Omar S. Harb, Karine G. Le Roch, Choukri Ben Mamoun |
Optical genome mapping offers a groundbreaking method for studying the human genome with […]
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