Illumina, Inc. (NASDAQ: ILMN) announced the release of its novel 5-base solution, enabling researchers to pursue broader biological questions with accuracy and ease. The 5-base solution marks a major advancement in scalable multiomic analysis, enabling simultaneous detection of both genomic variants and DNA methylation from a single sample, in a streamlined, cost-effective workflow. Powered by Illumina's proprietary 5-base chemistry and custom DRAGEN algorithms, the solution delivers high-resolution insights into both the methylome and genome while reducing complexity and cost. This powerful workflow can help researchers uncover disease mechanisms, detect and discover biomarkers for cancer and genetic disease, study disease progression, identify drug targets, and advance precision medicine.

"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."

Key features of the 5-base solution

Unlike conventional methylation conversion technologies, Illumina's proprietary conversion chemistry selectively converts methylated cytosine to thymine. This selective conversion of methylated cytosines preserves genomic complexity and variant information in the sequencing library, generating maximum biological insights in each run.

Customers can choose from two kits, Illumina 5-Base DNA Prep and Illumina 5-Base DNA Prep with Enrichment, both commercially available following a successful early-access program. Illumina 5-Base DNA Prep offers whole-genome coverage and Illumina 5-Base DNA Prep with Enrichment allows the user to focus on select genomic regions of interest through targeted enrichment. Both kits can detect DNA methylation at a single-base resolution.

The library preparation and sequencing of these kits are compatible with Illumina NovaSeq Systems and the NextSeq 2000 System. Novel DRAGEN algorithms allow for simultaneous methylation profiling and high-accuracy genomic variant calling. Illumina Connected Multiomics combines multiomic data with powerful statistical visualization and interpretation, making deep biological insights possible. This end-to-end Illumina pipeline unlocks the future of discovery and drug development.

Unlocking streamlined discovery in rare disease

London Health Sciences Centre Research Institute's research chair in Clinical Genomics and Epigenomics, Bekim Sadikovic, is one of over 50 early testers applying the 5-base solution to their multiomic research questions.

"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."

Sadikovic presented at the American Society of Human Genetics (ASHG) annual meeting in Boston, where he illustrated the Illumina 5-base solution's ability to detect variants and methylation signatures across rare disease samples. His talk "Validation of integrated platform for simultaneous detection of genetic variants and DNA methylation episignatures in rare diseases" was held in Room 153ABC on October 15 from 12:00 to 1:00 PM ET.

In addition to its new 5-base solution, Illumina is showcasing the new Illumina Protein Prep product along with its full range of multiomics technology this week at ASHG. Those interested in the ASHG talks but unable to attend the presentation can preregister for the on-demand webinar here. You can see all of Illumina's multiomics solutions in development and commercially available here.