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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 Nabsys Presents Data Detailing OhmX™ Platform's Unique Advantages of Genome Mapping at American Society of Human Genetics (ASHG) 2025 Annual Meeting 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 are the architectural changes, the large-scale edits to the blueprint, and they 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 (removing the brakes on cell growth), amplify oncogenes (cancer-promoting genes, like pressing the accelerator), or create entirely new "fusion genes" with novel, dangerous functions that drive uncontrolled cell growth. Identifying these large-scale changes is absolutely critical for understanding how a specific cancer behaves, predicting its aggressiveness, and choosing the most effective treatment strategy.

However, detecting SVs accurately and comprehensively across the entire genome has been a persistent challenge for existing genomic technologies:

  • Short-Read Sequencing (SRS): This is the workhorse of modern genomics, excellent for detecting point mutations and small insertions/deletions. But when it comes to large SVs, SRS struggles. Imagine trying to assemble a 1,000-page book where you only have millions of tiny snippets containing just a few words each – it's incredibly hard to tell if entire paragraphs or chapters have been moved, deleted, or duplicated.
  • Long-Read Sequencing (LRS): Technologies like PacBio and Oxford Nanopore read much longer DNA fragments (thousands or even tens of thousands of base pairs). This significantly improves the ability to detect and resolve SVs, as the longer reads can span the breakpoints of these rearrangements. However, LRS can still face challenges with extremely large or complex rearrangements, or within highly repetitive regions of the genome. Furthermore, the cost per genome can still be relatively high for certain applications.
  • Optical Genome Mapping (OGM): Platforms like Bionano Genomics take a different approach. They label specific DNA sequences on extremely long DNA molecules (hundreds of thousands to millions of base pairs) and then image these molecules as they are linearized and passed through nanochannels. This creates a unique "barcode" or map of each chromosome, which is excellent for detecting large SVs (typically 500 base pairs and larger). However, OGM relies on fluorescence imaging, which has inherent limitations in resolution and can sometimes struggle to precisely pinpoint breakpoints or differentiate between highly similar genomic regions.

There is a clear need for technologies that can provide accurate, high-resolution, genome-wide structural information efficiently, ideally complementing the base-pair level detail provided by sequencing. This is precisely the gap Nabsys aims to fill with its electronic genome mapping approach.

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

The Nabsys OhmX™ platform represents a fundamentally different way to visualize the large-scale structure of the genome. Instead of using light, cameras, and fluorescence (like optical mapping), it employs direct electronic detection.

How OhmX™ Works: A Step-by-Step Look

  1. Isolate High Molecular Weight DNA: The process begins by extracting very long DNA molecules from the sample (cells or tissue). These molecules need to be hundreds of thousands or even millions of base pairs long to provide long-range structural information.

  2. Sequence-Specific Electronic Labeling: Specific, known DNA sequence motifs that occur frequently throughout the genome are targeted. These motifs are then labeled with proprietary electronic tags. This process creates a unique pattern of tags along each long DNA molecule.

  3. Linearization in Nanochannels: The tagged, long DNA molecules are then carefully loaded onto a semiconductor chip containing numerous nanochannels – incredibly narrow fluidic channels, just wide enough for a single DNA molecule to pass through in a linearized, stretched-out fashion.

  4. Electronic Detection: As each DNA molecule translocates (moves) through its nanochannel, it passes over a series of electronic detectors embedded in the chip. These detectors precisely measure the physical location of each electronic tag along the DNA backbone in real-time.

  5. Genome Map Construction: Powerful bioinformatics software takes the raw electronic signal data – essentially the measured distances between consecutive tags on millions of long DNA molecules – and uses sophisticated algorithms to assemble high-resolution, whole-genome maps. These maps represent the large-scale structure of the chromosomes, revealing the pattern of the labeled motifs.

  6. Structural Variant Calling: By comparing the assembled map from the sample DNA to a known reference genome map, the software can accurately identify structural variants – differences in the pattern or spacing of tags indicate deletions, insertions, inversions, duplications, or translocations.

Key Differentiators from Optical Mapping:

  • Direct Electronic Measurement: OhmX™ directly detects the electronic tags as they pass the sensors. It doesn't rely on capturing photons from fluorescent labels, complex optics, high-resolution cameras, or extensive image processing. This direct physical measurement potentially eliminates sources of noise, artifacts, and resolution limitations inherent in optical systems.
  • Claimed Higher Resolution: Nabsys asserts that its electronic detection method allows for significantly higher effective resolution than traditional optical mapping. This could mean the ability to detect smaller structural variants (potentially bridging the gap between sequencing and large-scale mapping) and, crucially, to map the breakpoints of SVs with greater precision.
  • Potential Scalability and Speed: Semiconductor-based electronic detection platforms inherently offer potential advantages in terms of manufacturing scalability, cost reduction, speed, and throughput compared to complex optical imaging systems as the technology matures.

By providing these high-resolution electronic maps derived from direct physical measurements, OhmX™ aims to offer a uniquely powerful and accurate tool for visualizing the structural integrity (or lack thereof) of complex genomes, proving especially valuable in the chaotic genomic landscape of cancer.

Nabsys Presents Data Detailing OhmX™ Platform's Unique Advantages at ASHG 2025: What Was Shown?

The presentation at the American Society of Human Genetics (ASHG) 2025 Annual Meeting was a crucial platform for Nabsys to showcase the real-world performance and differentiating capabilities of the OhmX™ platform. The central theme, as highlighted in their announcement, revolved around demonstrating unique advantages and improved accuracy in detecting and validating structural variants within challenging cancer genomes, explicitly positioning it favorably against existing methods, including optical mapping.

While the specific details were contained within the presentation slides and talks, we can infer the key areas Nabsys likely focused on to support these claims:

  • Focus on Complex Cancer Genomes: The data almost certainly came from analyzing real patient-derived cancer samples (e.g., tumor biopsies, cell lines). These genomes are often highly rearranged and heterogeneous, providing a rigorous test for any structural analysis platform. Demonstrating robust performance here is critical for clinical relevance.
  • Comprehensive SV Detection and Validation: The presentation likely showcased OhmX™'s ability to identify the full spectrum of SV types – deletions, insertions, inversions, duplications, translocations – across the entire genome. Equally important would be data demonstrating its utility in validating SVs initially detected by sequencing (confirming their existence and structure) or, conversely, identifying large SVs missed by sequencing.

  • Evidence of "Improved Accuracy": This is the core claim. Nabsys likely presented specific data points and case studies to substantiate this, potentially including:
    • Higher Sensitivity: Demonstrating the ability to detect a greater number of true structural variants compared to other methods in the same samples.
    • Higher Specificity: Showing a lower rate of false positive SV calls, leading to more reliable results.
    • Enhanced Breakpoint Resolution: Providing evidence that OhmX™ can pinpoint the exact locations where DNA breaks and rejoins with greater precision than other mapping techniques.
    • Detection of Smaller or More Complex SVs: Highlighting examples of biologically significant SVs that fall below the typical detection threshold of lower-resolution methods or are too complex (e.g., involving repetitive regions) for sequencing alone to resolve accurately.
  • Direct Benchmarking Against Optical Mapping: The explicit mention of improved accuracy "over existing platforms, including optical mapping technologies" strongly suggests Nabsys presented head-to-head comparisons using the same cancer samples. This might have involved showing specific examples where OhmX™ provided a clearer, more accurate, or more comprehensive picture of structural rearrangements compared to results from established OGM platforms. This direct challenge is a significant strategic positioning move.

The narrative woven through the Nabsys Presents Data Detailing OhmX™ Platform's Unique Advantages of Genome Mapping at American Society of Human Genetics (ASHG) 2025 Annual Meeting was undoubtedly one of technological superiority, aiming to convince the scientific community that EGM represents a leap forward in structural genomic analysis.

Why Might Electronic Mapping Offer Superior Accuracy for Structural Variants?

What are the underlying technical reasons that could enable electronic genome mapping to achieve the improved accuracy Nabsys claims?

  1. Higher Intrinsic Resolution: The physical limits of optics (the diffraction limit of light) impose a ceiling on the resolution achievable with fluorescence microscopy used in OGM. Direct electronic detection, occurring at the nanoscale as the DNA passes sensors, might inherently allow for finer spatial resolution along the DNA molecule. This could translate to detecting smaller SVs and mapping breakpoints with single-kilobase or even sub-kilobase precision.

  2. Reduced Signal Noise and Ambiguity: Optical systems contend with challenges like background fluorescence, signal bleed-through between different color labels (if used), photobleaching, and difficulties resolving labels that are very close together. Electronic detection is a fundamentally different physical process, measuring electrical signals rather than photons. This may be less susceptible to certain types of noise and ambiguity, potentially leading to cleaner data, fewer artifacts, and more confident SV calls.

  3. Potentially More Uniform Genome Coverage: The efficiency and potential biases of sequence-specific labeling might differ between electronic tagging chemistries and optical labeling methods. If EGM's labeling is more uniform across diverse genomic regions (including repetitive or GC-rich areas), it could lead to more complete and unbiased genome maps.

  4. Direct Physical Measurement vs. Image Interpretation: EGM directly measures the physical position of tags relative to each other as the DNA molecule translocates. OGM captures images of fluorescent tags, and these images then need to be processed and interpreted by algorithms to infer the map. The directness of EGM could potentially reduce the number of steps where errors or approximations might be introduced.

The data presented by Nabsys at ASHG 2025 was likely designed to provide tangible evidence supporting these potential advantages, moving them from theoretical benefits to demonstrated capabilities using real-world cancer genome data.

Broader Implications: Impact on Cancer Research, Diagnostics, and Beyond

If the Nabsys OhmX™ platform consistently delivers on its promise of higher accuracy and resolution in structural variant detection, the ripple effects across cancer research and clinical practice could be substantial.

  • Uncovering Novel Cancer Drivers: More accurate and comprehensive SV detection could reveal previously overlooked oncogenic mechanisms, such as cryptic fusion genes, complex rearrangements affecting regulatory elements, or micro-deletions hitting critical tumor suppressor genes. This deeper understanding of cancer biology is fundamental to developing new therapies.
  • Refining Cancer Diagnostics and Prognostics: Many SVs serve as crucial diagnostic or prognostic biomarkers (e.g., certain translocations in leukemia or amplifications in solid tumors). A more accurate tool for detecting these SVs could lead to more precise patient stratification, better prediction of disease course, and more informed treatment selection. Identifying complex rearrangements might also predict resistance to certain therapies.
  • Identifying New Therapeutic Targets: Characterizing novel or complex structural rearrangements might uncover unique vulnerabilities in cancer cells, such as dependencies created by fusion proteins or genomic instability pathways, which could become targets for new drug development.
  • Improving Genome Assembly Quality: In basic research, high-resolution electronic genome maps can serve as an invaluable scaffold for assembling genomes from sequencing data. They help to correctly order and orient sequenced fragments (contigs), resolve complex repetitive regions, and produce more complete and accurate reference genomes.
  • Applications Beyond Cancer: While the ASHG presentation focused on oncology, the need for accurate SV detection is critical in many other fields. This includes diagnosing rare constitutional genetic disorders caused by large genomic rearrangements, understanding human population diversity and evolution, and even applications in agriculture and infectious disease research.

The accurate, genome-wide characterization of structural variation is increasingly recognized as essential for a complete understanding of genome function and its role in disease. Nabsys' electronic approach represents a significant technological advancement in pursuit of this goal.

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. It works by isolating very long DNA molecules, labeling specific sequences with electronic tags, and then detecting the precise location of these tags electronically as the DNA passes through nanochannels on a semiconductor chip. It focuses on the large-scale structure (the "blueprint") rather than the individual letters (A, T, C, G) read by DNA sequencing.

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

The primary difference lies in the detection method. EGM uses electronic sensors for direct detection of tags. OGM uses fluorescence microscopy (cameras and light) to image labeled DNA. Nabsys claims its electronic method offers significant advantages in terms of resolution and accuracy compared to optical methods.

3. What are Structural Variants (SVs)?

SVs are large-scale alterations in the structure of a chromosome, typically defined as changes larger than 50 DNA base pairs. Common types include deletions (missing DNA), insertions (added DNA), inversions (flipped DNA segments), duplications (copied DNA segments), and translocations (DNA swapped between different chromosomes).

4. Why are SVs so important in cancer research?

SVs are major drivers of cancer development and progression. They can disrupt critical genes that control cell growth, repair DNA damage, or regulate the cell cycle. For example, an SV might delete a gene that normally prevents tumors (a tumor suppressor) or create a new "fusion gene" that tells cells to grow uncontrollably. Accurately identifying SVs is essential for understanding the specific biology of a patient's tumor and choosing the most effective treatment.

5. Is the Nabsys OhmX™ platform available now?

Yes, the OhmX™ platform is commercially available for purchase by research laboratories and institutions. The data presented at ASHG 2025 aims to showcase its capabilities and encourage its adoption within the scientific community for research applications. Use in routine clinical diagnostics would require further validation studies and specific regulatory approvals.

Conclusion: A Higher Resolution View of the Genome's Architecture

The data unveiled by Nabsys Presents Data Detailing OhmX™ Platform's Unique Advantages of Genome Mapping at American Society of Human Genetics (ASHG) 2025 Annual Meeting represents an important milestone in the ongoing quest to fully comprehend the complexities of the human genome, particularly in the context of cancer. By demonstrating potentially improved accuracy and unique advantages in mapping structural variants within challenging cancer samples, Nabsys has forcefully positioned its electronic genome mapping technology as a powerful contender in the genomics toolkit.

While DNA sequencing provides the detailed sequence information, it's increasingly clear that understanding the large-scale architectural changes revealed by mapping technologies is equally crucial. Nabsys' claim of superior performance compared to existing platforms, including direct comparisons with optical mapping, sets the stage for EGM to potentially become an indispensable tool for researchers striving to uncover the hidden drivers of disease and for clinicians aiming for more precise diagnoses and treatments.

The path from base pairs to biological understanding requires seeing the genome at multiple scales. With innovative technologies like the Nabsys OhmX™ platform offering a potentially sharper, more accurate lens on large-scale structure, the scientific community gains a vital new capability in its mission to unravel the complexities of health and disease. The future of genomics is structural, and electronic mapping is making a strong case to be a leading technology in that future.


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