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 for Genome-Wide Structural Variation Analysis in Hematologic Malignancies: A Prospective Study Demonstrates Additional Findings Compared to Standard-of-Care (SOC) Cytogenomic Methods |
Blood January 16, 2024 |
Stephen J. Wicks, Marissa Younan, Trilochan Sahoo, et al. |
Optical Genome Mapping Combined with High-Throughput Sequencing Is Effective for the Diagnostic and Prognostic Genomic Classification of Acute Myeloid Leukemia and Myelodysplastic Neoplasms |
Blood January 16, 2024 |
Yannick LE Bris, Romain Madeuf, Catherine Godon, et al. |
Optical Genome Mapping Allows Detection and Characterization of Cytogenetically Cryptic Oncogenic Fusions in Pediatric Acute Myeloid Leukemia |
Blood January 16, 2024 |
Gordana Raca, Alexandra E. Kovach, Karin Miller, et al. |