Illumina, Inc. has unveiled its groundbreaking 5-base solution, a major leap forward in scalable multiomic analysis. The technology allows researchers to simultaneously detect genomic variants and DNA methylation from a single sample, providing richer biological insights through a streamlined, cost-effective workflow. Powered by Illumina’s proprietary 5-base chemistry and custom DRAGEN™ algorithms, the new solution enhances resolution and accuracy while simplifying complex genomic studies.
Illumina officially launched the 5-base solution at the American Society of Human Genetics (ASHG) Annual Meeting 2025 in Boston.
“Our new 5-base solution reflects the many ways we are redefining what's possible through the power of multiomics,” said Steve Barnard, chief technology officer of Illumina. “It's already driving insights in areas ranging from oncology to rare disease and elucidating the role of epigenetic regulation in human health—all in a cost-effective, scalable workflow.”
Unlike conventional methylation conversion technologies, Illumina’s proprietary conversion chemistry selectively converts methylated cytosine to thymine, preserving genomic complexity and variant data. This process maximizes biological information extracted from each sequencing run and delivers high-resolution insights into both the methylome and genome.
Researchers can choose from two commercially available kits:
Illumina 5-Base DNA Prep – provides whole-genome coverage.
Illumina 5-Base DNA Prep with Enrichment – enables targeted enrichment of selected genomic regions.
Both kits support single-base resolution methylation detection and are compatible with Illumina NovaSeq™ Systems and the NextSeq™ 2000 System. Integrated DRAGEN algorithms allow simultaneous methylation profiling and high-accuracy variant calling, while Illumina Connected Multiomics combines data visualization and interpretation to generate deep biological insights.
This end-to-end workflow aims to advance discovery and drug development by helping researchers uncover disease mechanisms, identify biomarkers, study disease progression, and accelerate precision medicine.
Among the early adopters of Illumina’s 5-base technology is Dr. Bekim Sadikovic, Research Chair in Clinical Genomics and Epigenomics at London Health Sciences Centre Research Institute, who has been applying the solution to rare disease research.
“Illumina's comprehensive 5-base technique—with the ability to use the combined genome sequencing and epigenetic data simultaneously—has the potential to change the way we look at functional genomics,” said Sadikovic. “This is going to allow us to add layers of insight that go beyond genetics alone, toward a more complete view of rare diseases.”
At ASHG, Dr. Sadikovic presented his findings in a talk titled “Validation of integrated platform for simultaneous detection of genetic variants and DNA methylation episignatures in rare diseases,” held on October 15. His presentation highlighted the 5-base solution’s ability to detect both genetic variants and methylation signatures across rare disease samples.
Alongside its 5-base solution, Illumina is also showcasing its new Illumina Protein Prep product and an extensive portfolio of multiomic technologies at ASHG. Researchers unable to attend in person can preregister for the on-demand webinar, and explore Illumina’s full range of commercial and developmental multiomics solutions online.