Reveal all classes of structural variants using Bionano’s optical genome mapping Stratys™ System. Explore the Stratysphere!

Truly Comprehensive, Genome-wide Detection of Causative Chromosomal Aberrations

Structural variants (SVs) make up most of human genomic variation and are implicated in reproductive health issues and genetic diseases, such as infertility and miscarriages, neurodevelopmental delay, and rare diseases. The “gold standard” techniques used to identify pathogenic SVs linked to these diseases, including cytogenetic and molecular methods, often fall short.

Current approaches do not detect all potential SVs implicated in DD/ID etiology.11-12 Leverage the power of OGM to achieve results that correlate highly to traditional cytogenetic methods while revealing new pathogenic SVs in some cases where array and sequencing were unsuccessful.

OGM’s comprehensive SV detection empowers labs to increase their chances of finding pathogenic SVs that lead to rare genetic diseases.13-15

OGM is a tool that helps researchers better understand the underlying genetic etiology of recurrent miscarriage, infertility, and pregnancy abnormalities, including the ability to resolve some cryptic aberrations not detected with traditional methods.16-19

What happens when you combine NGS with OGM?

When OGM is added to the mix, you get better detection of insertions, deletions, duplications, translocations, inversions, and repeat expansions. Learn more about how OGM works

Previous studies have shown that a substantial portion of SVs detected by OGM are not detected by sequencing methods.20-22

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

Overall, OGM maximizes detection providing an increase in pathogenic findings across genetic disease and cancer.

Case Studies

Review these genetic disease case studies to learn how OGM finds variants other technologies cannot.

“OGM allows next generation cytogenetics and enables the identification of hidden structural variants as a cause of rare diseases.”

Alexander Hoischen, PhD
Radboud UMC, The Netherlands

“OGM helps to resolve the genetic basis of immunodeficiencies important for receiving specific therapy.”

Dr. Doris Steinemann
Hannover Human Genetics, Hannover, Germany

“OGM reveals more of what matters: more clinically relevant SVs leading to higher success rates and resolution of unsolved cases.”

Dr. Laïla El-Khattabi
Hôpitaux de Paris (AP-HP)-Université de Paris Paris, France


OGM find new candidate genes

In a newborn with Congenital Diaphragmatic Hernia (CDH), a severe developmental disorder affecting the diaphragm, lungs and sometimes heart, OGM detected two adjacent duplications, one direct and one inverted. OGM revealed a much more complex architecture than could be inferred from microarray data and identified several additional candidate genes for CDH.24

OGM identifies new variants in known genes

In a subject with Duchenne Muscular Dystrophy (DMD), a 420 kbp segment from chromosome 15 was duplicated in an inverted orientation in intron 44 of the Dystrophin gene. This insertion was not detected by NGS, and while chromosomal microarray can detect the duplication, its location and, therefore, implication in DMD could not be determined.25

OGM reveals repeat expansions

In a single postmortem brain sample from an ALS subject, OGM detected a highly mosaic range of expansions of the C9orf72 GGGGCC repeat, ranging from the reference allele (not shown) to a 32 kbp expansion. No modern technology has been capable of spanning and measuring these large C9orf72 repeat expansions.26

OGM detects FSHD1

Facioscapulohumeral Muscular Dystrophy (FSHD1) is a common form of muscular dystrophy with an extremely complex genotype. Correct genotyping requires the accurate sizing of a very large repeat region in the subtelomeric region of chromosome 4, a correct determining of the pathogenic vs non-pathogenic allele, and the distinction between the chromosome 4 repeat and an almost identical repeat on chromosome 10 not related to the disease. A team from the University of Iowa published the largest clinical research study to date evaluating OGM for FSHD1. The study, published in the Journal of Molecular Diagnostics, concluded that OGM can be performed more quickly, accurately, and reproducibly than the current gold standard method of Southern blot analysis.27

Learn More About OGM

Read about what structural variations are and why they matter.

Learn More

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 receive the latest evidence on OGM for genetic disease applications.

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  12. Iqbal et al. Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis. MedRxiv 2021.12.27.21268432; doi:
  13. Shieh, J.T., Penon-Portmann, M., Wong, K.H.Y. et al. Application of full-genome analysis to diagnose rare monogenic disorders. npj Genom. Med. 6, 77 (2021).
  14. Stence AA, et al. Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy. J Mol Diagn. 2021 Nov;23(11):1506-1514. doi: 10.1016/j.jmoldx.2021.07.021. Epub 2021 Aug 9. PMID: 34384893; PMCID: PMC8647435.
  15. Dremsek P, et al. Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations. Genes (Basel). 2021 Dec 8;12(12):1958. doi: 10.3390/genes12121958. PMID: 34946907; PMCID: PMC8701374.
  16. Yang, Y., Hao, W. Identification of a familial complex chromosomal rearrangement by optical genome mapping. Mol Cytogenet 15, 41 (2022).
  17. Zhang S, Pei Z, Lei C, et al. Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping. Journal of Medical Genetics Published Online First: 16 June 2022. doi: 10.1136/jmedgenet-2022-108553
  18. Sahajpal NS, et al. Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses. Genes (Basel). 2021 Mar 11;12(3):398. doi: 10.3390/genes12030398. PMID: 33799648; PMCID: PMC8001299.
  19. Dai P, Zhu X, Pei Y, Chen P, Li J, Gao Z, Liang Y, Kong X. Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics. Mol Genet Genomic Med. 2022 Jun;10(6):e1936. doi: 10.1002/mgg3.1936. Epub 2022 Apr 6. PMID: 35384386; PMCID: PMC9184658.
  20. Ebert P, et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science. 2021 Apr 2;372(6537):eabf7117. doi: 10.1126/science.abf7117.
  21. Bayard Q, et al. Structure, Dynamics, and Impact of Replication Stress-Induced Structural Variants in Hepatocellular Carcinoma. Cancer Res. 2022 Apr 15;82(8):1470-1481. doi: 10.1158/0008-5472.CAN-21-3665.
  22. Chaisson, M.J.P., Sanders, A.D., Zhao, X. et al. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nat Commun 10, 1784 (2019).
  23. High S. Advanced analysis of risk loci in congenital disorders using Bionano optical genome mapping. ASHG Bionano Symposium. 2019.
  24. Barseghyan H. Bionano mapping for evaluation of structural variants in genetic diseases. ASHG Bionano Symposium. 2019.
  25. Ebbert MTW. Resolving complex genomic haplotypes in neurodegenerative disorders using Bionano Genomics Saphyr System. ASHG Bionano Symposium. 2019.
  26. Stence AA, Thomason JG, Pruessner JA, et al. Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy. J Mol Diagn. 2021;23(11):1506-1514. doi:10.1016/j.jmoldx.2021.07.021