Illumina, Inc. has unveiled its groundbreaking 5-base solution, setting a new standard for multiomic research by enabling scientists to simultaneously analyze genomic and epigenomic information from a single sample. According to PharmaBiz.com, this innovative technology promises to accelerate discoveries across a spectrum of health and disease areas by offering a more comprehensive view of biological processes than ever before.
A Leap Forward in Multiomic Analysis
The 5-base solution stands out for its ability to detect both genetic variants and DNA methylation patterns at single-base resolution in one streamlined, cost-efficient workflow. By employing Illumina’s proprietary 5-base chemistry—paired with advanced DRAGEN algorithms—researchers gain high-resolution insights into the methylome and genome without the need for complex, multi-step procedures. This approach greatly simplifies multiomic analysis, lowers costs, and expands access to deep biological insights.
Steve Barnard, Illumina’s chief technology officer, highlighted the impact of the new system: “Our 5-base solution is already generating breakthroughs in cancer, rare diseases, and the study of epigenetic regulation, all within a scalable and affordable workflow.” This flexibility and power allow researchers to explore disease mechanisms, discover new biomarkers, study disease progression, and identify potential drug targets, fueling advances in precision medicine.
How the 5-Base Solution Works
Unlike traditional methylation conversion methods, Illumina’s chemistry selectively converts methylated cytosine bases to thymine, preserving the integrity of the sequencing library and maintaining critical genetic information. This selective conversion maximizes the biological data obtained from each sequencing run.
The solution comes in two kit options: Illumina 5-Base DNA Prep for comprehensive whole-genome coverage, and Illumina 5-Base DNA Prep with Enrichment for targeted analysis of specific genomic regions. Both kits are now commercially available after a successful early-access phase, and each enables detection of DNA methylation at the highest possible resolution.
These kits integrate seamlessly with Illumina’s NovaSeq and NextSeq 2000 sequencing systems. Coupled with the DRAGEN algorithms, users benefit from simultaneous methylation profiling and accurate variant calling. The Illumina Connected Multiomics platform further empowers researchers by providing robust data visualization and interpretation tools, streamlining the path from raw data to actionable insights.
Early Success and Expert Validation
Bekim Sadikovic, PhD, a clinical genomics and epigenomics chair at London Health Sciences Centre Research Institute, is among over 50 early adopters of the 5-base solution. He notes its transformative potential for functional genomics: “By combining genome sequencing and epigenetic data, we can go beyond genetics alone to achieve a more complete understanding, especially in rare diseases.”
Sadikovic is sharing his team’s findings at the 2025 American Society of Human Genetics annual meeting in Boston, demonstrating the platform’s ability to detect both genetic variants and methylation signatures in rare disease samples.
Expanding the Multiomics Toolbox
Alongside the 5-base solution, Illumina is also showcasing its new Protein Prep product, reflecting the company’s broader commitment to advancing multiomics. As a global leader in sequencing and array-based technologies, Illumina continues to empower research, clinical, and applied markets, driving progress toward improved human health through genomic innovation.
