March is Colorectal Cancer Awareness Month, a time to emphasize prevention through screening while also acknowledging how advances in genomics are reshaping how we understand, detect, and treat colorectal cancer. While colonoscopy remains the cornerstone of prevention, colorectal cancer continues to be one of the most common and deadly cancers worldwide. This underscores the need not only for early detection, but for deeper molecular insight once disease is identified.
From a genomics perspective, colorectal cancer has long benefited from targeted sequencing panels that interrogate well-established drivers such as KRAS, NRAS, BRAF, APC, TP53, and other genes. These panels remain essential in clinical practice due to their efficiency, depth of coverage, and strong alignment with guideline-backed biomarkers for both somatic and hereditary disease. VarSeq was built with this reality in mind and fully supports the analysis of data generated from all commonly used cancer panels, regardless of vendor or chemistry. Our goal has always been to make tertiary analysis robust, reproducible, and adaptable to the assays labs already trust.
At the same time, the field is clearly moving toward broader discovery. Whole-exome, whole-genome, and now long-read sequencing are increasingly being adopted to uncover variants that fall outside the scope of traditional panels. This includes complex structural variants, difficult-to-map insertions or duplications, repeat expansions, and epigenetic signals such as methylation. These data types introduce both opportunity and complexity. Detecting more variants is only valuable if labs can confidently assess their quality, interpret their relevance, and report them efficiently. VarSeq was designed to scale with this transition, enabling consistent analysis across short-read panels and emerging long-read workflows within a single interpretive framework.
Supporting long-read data is not about replacing panels, but about complementing them. Long-read sequencing provides clarity in regions of the genome that have historically been ambiguous, offering improved resolution of structural variation and additional biological context that can inform prognosis, therapy selection, and research discovery. As these technologies mature, it becomes critical that tertiary analysis software remains sequencing-agnostic and capable of handling SNVs, indels, CNVs, structural variants, and methylation data without fragmenting the workflow. This is exactly the gap VarSeq and the VSWarehouse platform are intended to fill.
We recently explored this evolution in more detail in our webcast, Comprehensive Cancer Variant Analysis: From Panels to Long-Read Genomes, where we walked through real-world examples of somatic cancer analysis across sequencing strategies. The session highlights how labs can preserve the strengths of targeted testing while incrementally expanding discovery using broader and long-read datasets without disrupting existing pipelines.
Watch the webcast here:
https://www.goldenhelix.com/resources/webinars/cancer-variant-analysis-panels-long-read-genomes
For readers looking to go deeper into the clinical interpretation side of oncology genomics, we also recommend our Cancer Clinical Variant Analysis eBook, which provides a practical overview of how variants are evaluated, classified, and reported in a clinical setting.
Download the eBook here:
https://www.goldenhelix.com/resources/ebooks/cancer-clinical-variant-analysis
As we recognize Colorectal Cancer Awareness Month, it’s worth remembering that progress comes from both prevention and discovery. Screening saves lives while continued advances in genomic analysis are what allow us to better understand disease biology, refine risk, and expand therapeutic options. Our focus at Golden Helix remains the same: to support labs wherever they are today, while ensuring they’re prepared for the data and discoveries of tomorrow.
