Watch the exceptional presentations, plus the Q&A panel discussions, on demand from Symposium 2023!

Revolutionize Detection of Structural Variants to Maximize Pathogenic Findings

Detection of structural variants (SVs) is essential in clinical and translational research. However, next-generation sequencing (NGS) methods fail to detect all classes and sizes of SVs, missing a significant amount of information critical to understanding disease biology.1-4

Studies have shown that short-read and long-read sequencing technologies miss a  significant portion of SVs detected by OGM.2,3 Combine NGS with OGM to reveal a larger spectrum of genetic variants, generate a more complete profile of cancer and constitutional samples, and discover new actionable biomarkers.

  • Combine NGS profiles with OGM to unlock a larger spectrum of genetic variants, from small variants to all types and sizes of SVs, including rare events down to 5% allele fraction
  • Detect all classes of SVs with high resolution in cancer and constitutional samples, including those missed by NGS
  • Unveil pathogenic SVs not seen by sequencing, microarray, or other classical cytogenetic methods
  • Discover novel biomarkers and improve the number of informed cases across cancer and constitutional samples
  • Leverage OGM as an orthogonal method to confirm novel findings or help resolve variants of unknown significance (VUSs) from other technologies, such as arrays and sequencing
  • OGM workflow steps are similar to molecular workflows and can easily be implemented for a streamlined, sample-to-answer solution
  • See how our automated OGM workflow enables low hands-on time and scalability for easy in-house implementation
  • Simplify analysis of all small variant and SV results with Bionano software solutions for easier identification of pathogenic alterations, annotation, interpretation, and reporting

Curated Publications

See publications showcasing how global experts benefit from combining OGM and NGS to maximize discovery and pathogenic findings.
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“OGM is changing the way we look at structural variants in neurogenetic diseases.”

Dr. Enrico Bugiardini
UCL Queen Square Institute of Neurology, London, England

“The combination of OGM and a targeted NGS panel for genome profiling of myeloid cancer is more cost effective than 60x whole-genome sequencing and provides the most comprehensive genome analysis.”

Dr. Ravindra Kolhe
Augusta University Georgia, USA

DATA EXAMPLES

Combining OGM and NGS for resolution that ranges from single base pairs to chromosome scale enables the most comprehensive variant detection and view of the genome, suitable for novel biomarker discovery and translational/clinical research applications.

Combine NGS and OGM to achieve a comprehensive view of the genome, across all variant types and sizes.

Combine the strengths of OGM and NGS to unveil a truly comprehensive genomic profile.

As this Nature study, from the Human Genome Structural Variation Consortium (HGSVC) demonstrates, OGM can reveal many SVs that are missed by NGS methods.1 Add OGM to your NGS data to achieve comprehensive genomic profile of samples, and maximize pathogenic findings

There are dozens of publications reporting SV findings from OGM that are missed by classical cytogenetics and NGS approaches. Here are a few quantitative examples:

  • 50% SVs missed by karyotyping5
  • 28% SVs missed by long-read sequencing2
  • 37% SVs missed by short-read whole genome sequencing3

Combine OGM and NGS to maximize variant detection across the full variant spectrum.

DISCOVER HOW BIONANO SOLUTIONS BENEFIT CLINICAL CANCER RESEARCH

Molecular Characterization of Genome Structural Variants in Developmental Disorders: Comparison Between Optical Genome Mapping and Short Read Whole Genome Sequencing.

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Clinical utility of combined optical genome mapping and a comprehensive genomic sequencing in a robust evaluation of hematological cancers.

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Watch several scientific experts discuss the value of combining NGS and OGM across oncology and constitutional applications

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Learn More About OGM

Read about what structural variations are and why they matter.

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See how OGM reveals structural variation in a way that has never been done before.

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Find the latest research in our Publications Library.

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Sign up to get the latest updates on Bionano Solutions for molecular genomic applications.

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RELATED MATERIALS

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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Reference:
  1. Chaisson MJ, Sanders AD, Zhao X, et al. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature Communications. 2019;10(1784). doi:10.1038/s41467-018-08148-z;
  2. Ebert P, Audano PA, Zhu Q, et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science. 2021;372(6537). doi:10.1126/science.abf7117
  3. Bayard Q, Cordier P, Péneau C, et al. Structure, dynamics, and impact of replication stress–induced structural variants in hepatocellular carcinoma. Cancer Research. 2022;82(8):1470-1481. doi:10.1158/0008-5472.can-21-3665
  4. Sabatella M, Mantere T, Waanders E, et al. Optical genome mapping identifies a germline retrotransposon insertion in smarcb1 in two siblings with atypical teratoid rhabdoid tumors. The Journal of Pathology. 2021;255(2):202-211. doi:10.1002/path.5755
  5. Yang H, Garcia-Manero G, Sasaki K, et al. High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance. Leukemia. 2022;36(9):2306-2316. doi:10.1038/s41375-022-01652-8