The promise of personalized medicine depends on discovering critical insights into tumor biology that can uncover new therapeutic targets and biomarker signatures that inform care. Structural variants (SVs) are a hallmark of cancer, yet current cytogenetic and molecular methods fail to detect all classes and sizes of SVs, missing a significant amount of information critical to understanding cancer biology.1-16 Studies have shown that a significant portion of SVs detected by optical genome mapping (OGM) are being missed by traditional cytogenetic and next-generation sequencing (NGS) approaches.2,16,17
Leverage OGM to maximize SV detection, so you can build comprehensive genomic profiles of hematological malignancies and solid tumors, deepening your understanding of cancer biology and unlocking new precision medicine possibilities.
Leverage OGM’s unbiased, genome-wide, and high-resolution capabilities to detect all classes of SVs, maximize pathogenic findings and increase the number of informed cases in hematological malignancies and solid tumor samples.
Unveil new meaningful events with OGM, from single SVs to complex events such as chromothripsis, or even genome-wide signatures such as homologous recombination deficiency.
Combine findings from OGM and NGS to uncover more pathogenic insights and generate comprehensive genomic profiles of tumor samples that deepen the understanding of underlying pathology.
Detect chromosomal aberrations commonly found with traditional cytogenetics while revealing incremental pathogenic findings using a single, easy-to-implement OGM workflow.
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Use OGM to uncover meaningful SVs in solid tumor genomes that can’t be seen with NGS approaches.
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Check out expert presentations on the utility of OGM for evaluating hematological malignancies.
Watch VideosExplore the growing evidence for OGM performance in heme in this downloadable publication summary.
Read MoreLearn how researchers are using OGM to better characterize and discover SVs across multiple solid tumor types.
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| title | SOURCE | Authors |
|---|---|---|
| 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. |
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