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Nabsys Data at ASHG 2025: OhmX™ Platform Demonstrates Superior Accuracy in Mapping Cancer Genome Structures

1.10.25

The world of human genetics is a landscape of constant innovation, driven by the relentless pursuit of understanding the intricate code that defines our health and diseases. Nowhere is this pursuit more critical than in cancer research, where deciphering the complex genomic alterations within tumors holds the key to developing more effective diagnostics and targeted therapies. While DNA sequencing has revolutionized our ability to read the genetic letters, a significant challenge remains: understanding the large-scale structural changes within the genome.

This week, the American Society of Human Genetics (ASHG) 2025 Annual Meeting became the stage for a potentially significant advancement in this area. Nabsys, a company pioneering electronic genome mapping (EGM), presented compelling new data showcasing the capabilities of its OhmX™ platform. The findings detailed the platform's unique advantages in detecting and validating structural variants (SVs) in cancer genomes, demonstrating improved accuracy over existing platforms, including established optical mapping technologies.

This presentation isn't just another incremental update; it signals the growing power of electronic mapping as a crucial tool alongside sequencing, offering a higher-resolution view of the complex rearrangements that often drive cancer development and progression. Let's delve into why accurately mapping structural variants is so vital, how the Nabsys OhmX™ platform works, and what the data presented at ASHG 2025 could mean for the future of cancer genomics.

The Challenge: Seeing the Forest Through the Trees in Cancer Genomes

Understanding the genetic basis of cancer requires looking beyond simple changes in single DNA letters (point mutations). Cancers are often characterized by large-scale rearrangements of the genome known as Structural Variants (SVs). These include:

  • Deletions: Large chunks of DNA are missing.
  • Insertions: Large segments of DNA are added.
  • Inversions: Sections of a chromosome are flipped backward.
  • Duplications: Segments of DNA are copied multiple times.
  • Translocations: Pieces of different chromosomes break off and swap places.

These SVs can have profound consequences. They can delete tumor suppressor genes, amplify oncogenes (cancer-promoting genes), or create entirely new "fusion genes" that drive uncontrolled cell growth. Identifying these large-scale changes is absolutely critical for understanding how a specific cancer behaves and for choosing the most effective treatment.

However, detecting SVs accurately has been a persistent challenge for existing genomic technologies:

  • Short-Read Sequencing (SRS): While excellent for detecting point mutations, SRS struggles with large SVs. Imagine trying to assemble a 1,000-piece puzzle where all the pieces are tiny and many look identical – it's hard to see the big picture or how large sections might be rearranged.
  • Long-Read Sequencing (LRS): Technologies like PacBio and Oxford Nanopore read much longer DNA fragments, significantly improving SV detection. However, LRS can still face challenges with extremely complex rearrangements or repetitive regions of the genome, and the cost can be prohibitive for some applications.
  • Optical Genome Mapping (OGM): Platforms like Bionano Genomics label specific DNA sequences on very long molecules and image them as they pass through nanochannels. This provides a "barcode" map of the genome, excellent for detecting large SVs. However, OGM relies on fluorescence imaging, which has inherent limitations in resolution and can sometimes struggle with certain types of SVs or differentiating highly similar regions.

There is a clear need for technologies that can provide accurate, high-resolution, genome-wide structural information, ideally complementing the data obtained from sequencing. This is the gap Nabsys aims to fill with electronic genome mapping.

Introducing Nabsys OhmX™: The Power of Electronic Genome Mapping (EGM)

The Nabsys OhmX™ platform represents a fundamentally different approach to visualizing the structure of the genome. Instead of relying on light and cameras (like optical mapping), it uses electronic detection.

How OhmX™ Works:

  1. DNA Labeling: Very long DNA molecules (hundreds of thousands or even millions of base pairs) are isolated. Specific, short DNA sequences that occur throughout the genome are labeled with electronic tags.

  2. Nanochannel Flow: These tagged DNA molecules are then threaded, one by one, through incredibly narrow nanochannels on a semiconductor chip.

  3. Electronic Detection: As the DNA molecule moves through the channel, electronic detectors precisely measure the physical location of each tag along the DNA backbone.

  4. Genome Map Construction: Sophisticated software algorithms use the pattern of these electronic tags to construct high-resolution, whole-genome maps, revealing the large-scale structure of the chromosomes.

Key Differentiators from Optical Mapping:

  • Direct Electronic Measurement: OhmX™ directly detects the electronic tags without the need for complex optics, fluorescence imaging, or image processing. This potentially eliminates sources of noise and error associated with optical systems.
  • High Resolution: Nabsys claims its electronic detection method allows for significantly higher resolution than traditional optical mapping, enabling the detection of smaller structural variants and more precise mapping of breakpoints (the exact points where DNA has broken and rearranged).
  • Scalability and Speed: Electronic detection on semiconductor chips offers potential advantages in terms of speed, throughput, and cost-effectiveness as the technology scales.

By providing these high-resolution electronic maps, OhmX™ aims to offer a uniquely powerful tool for visualizing the structural integrity (or lack thereof) of complex genomes, particularly in cancer.

Nabsys Presents Data Detailing OhmX™ Platform's Unique Advantages at ASHG 2025

The presentation at the ASHG 2025 Annual Meeting was a critical opportunity for Nabsys to showcase the real-world performance of the OhmX™ platform, specifically in the challenging context of cancer genomics. The core message, based on the company's announcement, centered on unique advantages and improved accuracy compared to existing methods, including optical mapping.

Key Highlights Likely Presented:

  • Focus on Cancer Genomes: The data presented was derived from analyzing complex cancer samples, which are often characterized by numerous and intricate structural rearrangements. This demonstrates the platform's ability to handle real-world, clinically relevant samples.
  • Detection and Validation of SVs: The presentation likely detailed OhmX™'s capability not only to detect a wide range of structural variants (deletions, insertions, inversions, translocations) but also to validate findings from other methods, such as sequencing. Validation is crucial for confirming the biological significance of potential alterations.

  • Improved Accuracy Claims: This is the most significant point. Nabsys highlighted data demonstrating that OhmX™ achieves superior accuracy in identifying and characterizing SVs compared to other platforms. This could mean:
    • Higher sensitivity (detecting more true SVs).
    • Higher specificity (fewer false positives).
    • More precise mapping of SV breakpoints.
    • Better resolution for detecting smaller SVs that might be missed by lower-resolution methods.
  • Direct Comparison to Optical Mapping: Nabsys explicitly mentioned improved accuracy over optical mapping technologies. This direct comparison suggests Nabsys presented data showing specific instances or types of SVs where OhmX™ provided a clearer or more correct result than established OGM platforms. This is a bold claim aimed squarely at positioning EGM as a superior alternative for certain applications.

While the specific datasets and quantitative metrics would have been detailed in the presentation itself, the overarching narrative is clear: Nabsys is positioning OhmX™ as a next-generation tool capable of providing a more accurate and higher-resolution view of genome structure, particularly critical for unraveling the complexities of cancer.

Why Electronic Mapping Might Offer Superior Accuracy for Structural Variants

What inherent advantages of electronic genome mapping could lead to the improved accuracy Nabsys claims?

  1. Higher Native Resolution: Direct electronic detection of tags might allow for finer spatial resolution along the DNA molecule compared to resolving fluorescent spots using optical microscopy. This could enable the detection of smaller SVs (perhaps in the range of a few hundred base pairs, bridging the gap between sequencing and traditional mapping) and more precise localization of breakpoints.

  2. Reduced Noise and Artifacts: Optical systems can suffer from background fluorescence, signal bleed-through, and limitations in resolving closely spaced labels. Electronic detection is a fundamentally different physical process that may be less prone to these types of noise, potentially leading to cleaner data and fewer false calls.

  3. Uniform Labeling Efficiency?: While speculative, electronic tagging methods might offer different efficiencies or biases compared to optical labeling, potentially leading to more uniform coverage across the genome and better detection in difficult regions.

  4. Direct Measurement: EGM measures the physical position of tags directly. OGM measures light emitted from tags, which then needs to be interpreted and converted into a map. The directness of EGM could inherently reduce layers of potential error.

The data presented at ASHG 2025 was likely designed to provide concrete evidence supporting these potential theoretical advantages, showcasing real-world examples from cancer genomes where OhmX™ delivered superior results.

Implications for Cancer Research and Beyond

If the Nabsys OhmX™ platform consistently delivers on its promise of improved accuracy in SV detection, the implications for cancer research and clinical practice could be profound.

  • Uncovering Hidden Drivers of Cancer: More accurate SV detection could reveal previously missed oncogenic drivers, fusion genes, or deletions of tumor suppressors, leading to a deeper understanding of cancer biology.
  • Improving Cancer Diagnostics and Prognostics: Certain structural variants are known biomarkers associated with specific cancer subtypes, prognoses, or responses to therapy. A more accurate tool for detecting these SVs could lead to more precise patient stratification and personalized treatment plans.
  • Identifying Novel Therapeutic Targets: Characterizing complex rearrangements could uncover new vulnerabilities in cancer cells that could be targeted by novel therapies.
  • Enhancing Genome Assembly: In research settings, high-resolution genome maps from OhmX™ can serve as a powerful scaffold to improve the accuracy and completeness of genome assemblies generated from sequencing data, especially in complex regions.
  • Beyond Cancer: While the ASHG presentation focused on cancer, the advantages of high-resolution structural variant detection extend to constitutional genetic diseases, population genomics, and other areas where understanding large-scale genome architecture is critical.

The ability to accurately and comprehensively map structural variation is becoming increasingly recognized as a crucial component of understanding genome function and dysfunction. Nabsys' electronic approach represents a significant technological push in this direction.

Frequently Asked Questions (FAQ)

1. What is Electronic Genome Mapping (EGM)?

EGM, as implemented by Nabsys' OhmX™ platform, is a technology that creates high-resolution maps of whole genomes by electronically detecting tagged DNA molecules as they pass through nanochannels. It focuses on large-scale structure rather than the individual base pairs read by sequencing.

2. How is EGM different from Optical Genome Mapping (OGM)?

The main difference is the detection method. EGM uses electronic sensors to directly detect tags on DNA. OGM uses cameras and microscopy to image fluorescently labeled DNA molecules. Nabsys claims its electronic method offers advantages in resolution and accuracy.

3. What are Structural Variants (SVs)?

SVs are large-scale changes in the genome's structure, typically defined as alterations larger than 50 base pairs. They include deletions, insertions, inversions, duplications, and translocations of DNA segments. They are distinct from smaller changes like single nucleotide polymorphisms (SNPs).

4. Why are SVs particularly important in cancer?

SVs are a major driving force in many cancers. They can disrupt genes that control cell growth, leading to tumor formation, progression, and resistance to therapy. Accurately identifying SVs is crucial for understanding a specific cancer and choosing the right treatment.

5. Is the Nabsys OhmX™ platform commercially available?

The OhmX™ platform is commercially available for researchers. The data presented at ASHG 2025 serves to further validate its capabilities and encourage adoption within the scientific community. Its use in clinical diagnostics would require further validation and regulatory approvals.

Conclusion: A Sharper Lens on Genome Structure

The Nabsys data presented at ASHG 2025 marks an important step in the evolution of genome analysis technology. By showcasing the OhmX™ platform's unique advantages and improved accuracy in mapping structural variants within complex cancer genomes, the company has thrown down the gauntlet, challenging existing methods and highlighting the potential of electronic detection.

While sequencing provides the fine print of the genome, mapping technologies like OhmX™ provide the essential blueprint, revealing the large-scale architecture that is so often disrupted in diseases like cancer. The claim of superior accuracy over established platforms, particularly optical mapping, is significant and, if borne out by wider adoption and further studies, could position Electronic Genome Mapping as an indispensable tool for researchers and, eventually, clinicians.

The journey to fully understanding the cancer genome is far from over, but with innovative technologies like the Nabsys OhmX™ platform offering a sharper, more accurate lens, we move one step closer to unlocking the insights needed to conquer this devastating disease. The future of cancer genomics looks increasingly structural, and Nabsys is clearly aiming to be at the forefront of that revolution.


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