Over the past several years, and especially through 2024 and 2025, genomics has been undergoing a quiet but consequential transition. After more than a decade of rapid expansion in sequencing capacity, attention has increasingly shifted from generating ever-larger datasets to leveraging the added power of those datasets. Across research and clinical settings, the challenge is shifting from how to read the genome to how to interpret it in ways that capture biological complexity, disease relevance, and real-world utility.

One clear signal of this shift is the growing emphasis on multi-omics integration. Recent reviews highlight how combining genomic, transcriptomic, epigenomic, and proteomic data can improve study design and biological insight, while also underscoring how integration, rather than data generation, has become the new bottleneck in many workflows.^1–4 In parallel, structural variation has re-emerged as an important theme. Large-scale analyses consistently show that insertions, deletions, inversions, and complex rearrangements account for a substantial fraction of functional variation in the human genome, yet remain under-detected or difficult to interpret using sequencing alone, particularly in repetitive or rearrangement-prone regions.^5,6 The broader biological significance of structural variants (SVs) and their contribution to human variation is explored further in Beyond the Sequence: The Role of Structural Variants in Genomics.

Within this landscape, long-range genome mapping technologies have gained attention as complements to sequencing. Clinical studies combining whole-genome sequencing with genome mapping in hematologic malignancies, for example, have demonstrated how long-range structural context can resolve complex rearrangements that sequencing alone may fragment or miss.^7–9 Rather than displacing sequencing, these approaches illustrate a broader trend—pairing base-level resolution with structural insight to improve confidence and interpretability. 

For Nabsys, 2025 unfolded within this broader maturation of the field. It was a year defined less by disruption than by steady progress. This included continued development of electronic genome mapping (EGM), growing application-specific workflows, and measured adoption, including our first European analyzer placement. These milestones reflect a genomics community increasingly focused on resolution, reproducibility, and how new tools fit into real analytical pipelines.

The State of Genomics in 2025

By 2025, genomics had firmly moved beyond the era of single-modality projects. Reviews spanning oncology, rare disease, and complex traits consistently describe a landscape shaped by integration—where insights emerge from connecting sequence data with expression, regulation, and structure.^1–4 Importantly, these analyses also acknowledge the practical challenges of integration: harmonizing data types, managing scale, and avoiding analytical complexity that outpaces biological insight.

Structural variation, in particular, has become harder to ignore. Comprehensive surveys emphasize that SVs are widespread, evolutionarily significant, and often functionally disruptive, influencing gene dosage, regulation, and chromatin organization.⁵ Studies of rare disease cohorts further show that complex de novo SVs are likely under-recognized contributors to pathogenicity, in part because they are difficult to reconstruct using short- or even long-read sequencing alone.⁶ 

Clinical genomics has begun to respond to this gap. In hematologic malignancies, multiple groups have shown that pairing whole-genome sequencing with genome mapping can improve detection and characterization of clinically relevant rearrangements, including cryptic translocations and complex karyotypes.^7–9 These hybrid approaches reflect a broader realization: no single technology captures all dimensions of genome variation equally well.

At the same time, operational considerations came into sharper focus as studies grew in scale and complexity. Across both research and clinical settings, groups invested in automation, standardized pipelines, and shared analytical frameworks as ways to manage increasing data volumes and reduce variability between analyses.^10,11

In parallel, data normalization and interoperability efforts aimed to support the movement of genomic results between tools, institutions, and downstream clinical systems.¹² Together, these developments reflected ongoing attempts to coordinate tools, data types, and workflows in ways that support consistent analysis and interpretation, particularly as genomics continues to incorporate multiple modalities and larger cohorts.

Nabsys and the Shape of Discovery

Against this backdrop, the progress at Nabsys in 2025 reflected a focus on application-driven validation rather than headline claims. Continued development of the OhmX Platform supported ultra-long DNA analysis and SV detection, positioning EGM as a tool for capturing long-range genomic information that complements sequencing data. 

Targeted workflows also advanced. The development of pipelines such as the RepX Repeat Expansion Analysis pipeline, designed to address repeat expansion detection, aligned with growing recognition that repeat-rich regions remain challenging for conventional sequencing approaches. For a deeper look at how EGM can enhance repeat expansion detection, see Supercharging Repeat Expansion Detection with Electronic Genome Mapping. By focusing on specific, high-impact applications, these efforts aimed to demonstrate where EGM can add meaningful clarity.

Visibility through scientific presentations and conference participation further supported this measured approach, allowing data and use cases to be discussed within the community rather than positioned as finished conclusions. The first European analyzer placement marked another step in this trajectory. It was not a signal of market dominance, but an indicator of growing interest in alternative mapping modalities within an increasingly global genomics ecosystem. This measured approach reflects how Nabsys has articulated its role within the genomics ecosystem—as a partner supporting discovery rather than defining it—a perspective outlined in Nabsys Reimagined: Empowering Heroes.

Looking Ahead to 2026

Looking toward 2026, the trajectory set over the past several years appears likely to continue rather than reset. Multiomics integration is expected to become more pragmatic, with greater emphasis on workflows that balance depth with usability.^1–4 Structural variation will remain a critical frontier, particularly as clinical and population-scale studies increasingly incorporate SV detection and as visualization tools improve the interpretability of complex rearrangements.^5,13

Hybrid analytical strategies—combining sequencing with mapping or other long-range methods—are likely to be explored further in disease areas where structure plays an outsized role.^7–9 Operationally, continued investment in automation, standardized pipelines, and interoperable data formats should make it easier to assess new technologies based on real-world performance rather than theoretical capability.^10–12

For Nabsys, this environment creates space for thoughtful growth: expanding applications and placements where the lower cost and higher resolution of EGM add genuine structural insight, and collaborating with users who are already building the integrated workflows that will define the next phase of genomics.

Closing

Progress in genomics rarely announces itself loudly. More often, it emerges through persistence, refinement, and a growing alignment between technology and biological questions. As the field enters its next chapter, each incremental advance—large or small—helps clarify the shape of what’s possible.

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Stay tuned for more insights as we continue mapping what’s ahead.

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