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Maximize the Detection of Pathogenic Aberrations With Optical Genome Mapping

Hematological malignancies are characterized by multiple classes of chromosomal aberrations. Comprehensive detection of these aberrations is vital to properly classify samples and provide actionable information. Due to the limitations of current cytogenetic approaches, only a fraction of the samples evaluated lead to a positive aberration finding11-13. Optical genome mapping (OGM) significantly improves detection to unlock truly comprehensive chromosomal aberration profiles and maximize the number of informed cases.

Achieve, with a single assay, detection of aberrations from all classical cytogenetic technologies combined.

  • With a single workflow, find all classes of chromosomal aberrations detected by karyotyping, FISH, and chromosomal microarrays combined
  • Generate results with >99% concordance with standard cytogenomic methods as demonstrated by multiple peer-reviewed studies
  • Achieve 10,000x resolution and higher sensitivity compared to karyotyping, with a scalable digital approach


Find more pathogenic and actionable chromosomal abnormalities.

  • Reveal significantly more pathogenic aberrations than classical cytogenetics, with a higher-resolution, genome-wide, and unbiased method
  • Enable more pathogenic discoveries, resolve cryptic cases, and determine complex events like chromothripsis with much higher precision and resolution
  • Increase the number of informed cases, and reduce the rate of cases signed off as “normal” due to lack of findings from classical methods

Simplify and transform your lab operations.

  • Transform your lab operations by reducing complexity and number of assays required per sample
  • Implement a simpler sample-to-answer workflow that does not require cell culture and has more automated steps with simpler data analysis
  • Leverage sophisticated software solutions to visualize and call variants, annotate and interpret findings, and report results

Curated Publications

See the research global experts are publishing on OGM and hematological malignancies.
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“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

“30% of previously unsolved cases for B-ALL, which previously underwent karyotype + FISH + microarray + NGS, were solved using OGM.”

Dr. Gordana Raca
Children’s Hospital Los Angeles

Data Examples

Multiple peer-reviewed studies from global experts have demonstrated the same outcomes: OGM has a high correlation to results from traditional methods across diverse types of hematological malignancies, while consistently revealing additional pathogenic findings.

When compared to traditional cytogenetic methods, OGM can uncover up to twice as many pathogenic chromosomal aberrations.

In a 2022 MD Anderson Cancer Center study, OGM detected twice the number of clinically significant chromosomal aberrations as karyotyping in 101 myelodysplastic samples.8 This figure illustrates the Circos plot view of the variants identified by karyotyping (left) versus OGM (right).

High-resolution and enhanced characterization of samples by OGM also leads to better risk analysis and stratification of samples.


Disease Impact of OGM Analysis
AML and MDS9 For 67% of cases, the karyotype was redefined. In some cases, this led to an adjustment in ELN risk classifications
AML and MDS10 11% of samples for which OGM findings led to change in R-IPSS or 2010/2017 ELN score
MDS8 17% of cases assessed with OGM had the IPSS-R risk reclassified from initial karyotyping

Discover How OGM Benefits Clinical Research in Cancer

Sign up to watch the AMP 2022 Bionano Corporate Workshop #1, which discusses Maximizing Detection of Pathogenic Structural Variants Across Hematological Malignancies with Optical Genome Mapping.

Watch Videos

Sign up to watch this webinar and hear from Bionano’s Dr. Alka Chaubey and Dr. Adam Smith, UHN, as they discuss how Optical Genome Mapping Meets Challenges for New Blood Cancer Classifications

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Sign up to watch this webinar and hear how OGM makes a huge impact on clinical research, as Dr. Rashmi Kanagal-Shamanna and Dr. Guillermo Garcia-Manero (MD Anderson Cancer Center) discuss OGM for Enhanced Characterization of Myelodysplastic Syndromes.

Watch On-demand

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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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.

  1. Neveling K, Mantere T, Vermeulen S, et al. Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping. The American Journal of Human Genetics. 2021;108(8):1423-1435. doi:10.1016/j.ajhg.2021.06.001
  2. Levy B, Baughn LB, Chartrand S, et al. A national multicenter evaluation of the clinical utility of optical genome mapping for assessment of genomic aberrations in Acute myeloid leukemia. December 2020. doi:10.1101/2020.11.07.20227728
  3. Lestringant V, Duployez N, Penther D, et al. Optical genome mapping, a promising alternative to gold standard cytogenetic approaches in a series of acute lymphoblastic leukemias. Genes, Chromosomes and Cancer. 2021;60(10):657-667. doi:10.1002/gcc.22971
  4. Stinnett V, Jiang L, Haley L, et al. Adoption of optical genome mapping in Clinical Cancer Cytogenetic Laboratory: A stepwise approach. Cancer Genetics. 2022;260-261:3. doi:10.1016/j.cancergen.2021.05.021
  5. Kriegova E, Fillerova R, Minarik J, et al. Whole-genome optical mapping of bone-marrow myeloma cells reveals association of extramedullary multiple myeloma with chromosome 1 abnormalities. Scientific Reports. 2021;11(1). doi:10.1038/s41598-021-93835-z
  6. Sahajpal NS, Mondal AK, Tvrdik T, et al. Clinical validation and diagnostic utility of optical genome mapping for enhanced cytogenomic analysis of hematological neoplasms. The Journal of Molecular Diagnostics. November 2022. doi:10.1016/j.jmoldx.2022.09.009
  7. Lühmann JL, Stelter M, Wolter M, et al. The clinical utility of optical genome mapping for the assessment of Genomic Aberrations in acute lymphoblastic leukemia. Cancers. 2021;13(17):4388. doi:10.3390/cancers13174388
  8. 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
  9. Gerding W, Tembrink M, Nilius-Eliliwi V, et al. Optical genome mapping reveals additional prognostic information compared to conventional cytogenetics in AML/MDS patients. Int J Cancer. 2022 Jun 15;150(12):1998-2011. doi: 10.1002/ijc.33942.
  10. Balducci E, Kaltenbach S, Villarese P, et al. Optical genome mapping refines cytogenetic diagnostics, prognostic stratification and provides new molecular insights in adult MDS/AML patients. Blood Cancer J. 2022;12(126). doi:
  11. Tsui SP, Ip HW, Saw NY, et al. Redefining prognostication of de novo cytogenetically normal acute myeloid leukemia in young adults. Blood Cancer J. 2020 Oct 19;10(10):104. doi: 10.1038/s41408-020-00373-4. PMID: 33077814; PMCID: PMC7573626.2. Nimer. Best Pract Res Clin Haematol. 2008. PMID: 18342811.
  12. Nimer SD. Is it important to decipher the heterogeneity of “normal karyotype AML”? Best Pract Res Clin Haematol. 2008 Mar;21(1):43-52. doi: 10.1016/j.beha.2007.11.010. PMID: 18342811; PMCID: PMC2654590.
  13. Walker A, Marcucci G. Molecular prognostic factors in cytogenetically normal acute myeloid leukemia. Expert Rev Hematol. 2012 Oct;5(5):547-58. doi: 10.1586/ehm.12.45. PMID: 23146058; PMCID: PMC3582378.4. Graessner et al. Eur J Hum Genet. 2021. PMID: 34140650.