Illumina fuels multiomic discovery with launch of 5-base solution, unlocking simultaneous genomic and epigenomic insights

Rhea-AI Summary

Illumina (NASDAQ: ILMN) on October 15, 2025 announced its 5-base solution for simultaneous genomic variant detection and DNA methylation profiling from a single sample. The offering uses proprietary 5-base chemistry and DRAGEN algorithms to enable dual-omic analysis with reduced complexity and cost.

Two kits are commercially available: Illumina 5-Base DNA Prep (whole-genome) and 5-Base DNA Prep with Enrichment (targeted). Both detect methylation at single-base resolution and are compatible with NovaSeq Systems and NextSeq 2000. Over 50 early testers participated, and a London Health Sciences Centre researcher will present validation data at ASHG on October 15, 2025.

Positive

• Detects DNA methylation at single-base resolution
• Simultaneous methylation profiling and high-accuracy genomic variant calling
• Compatible with NovaSeq Systems and NextSeq 2000
• Over 50 early-access testers including London Health Sciences Centre

Negative

• Challenges in developing and launching may affect timing and scale
• Reliance on third-party suppliers for critical components
• Ability to manufacture robust instrumentation and consumables is uncertain
• Customer acceptance of the new products may not meet expectations

Insights

Multiomics Product Strategy Expert

Illumina launched a commercially available 5-base solution enabling simultaneous genome and DNA methylation profiling; early access users and platform compatibility are highlighted.

**Illumina** released a 5-base solution on October 15, 2025 that combines proprietary conversion chemistry and DRAGEN algorithms to produce both high-accuracy genomic variant calls and single-base DNA methylation data from one library. The company offers two kits—**Illumina 5-Base DNA Prep** (whole-genome) and **Illumina 5-Base DNA Prep with Enrichment** (targeted)—and states compatibility with NovaSeq Systems and the NextSeq 2000 System. Over 50 early testers participated in the program and a presenter from the London Health Sciences Centre Research Institute will demonstrate results at ASHG on October 15, 2025.

The observable business mechanism is product-led expansion: a single workflow that claims to reduce complexity and cost while delivering dual-omic outputs may increase consumable and software demand if customers adopt it. Risks the company explicitly notes include scaling manufacturing, reliance on third-party suppliers, and customer acceptance; these are stated forward-looking risk factors in the release. The technical claims rely on three concrete elements disclosed here: proprietary conversion chemistry, novel DRAGEN algorithms, and two commercially available kits following an early-access program.

Key monitorable items and near-term time horizon: watch uptake signals over the next several quarters such as peer-reviewed validation at ASHG and early-access user publications, announcements on manufacturing scale or supplier progress, and customer adoption metrics or usage case studies. These items map directly to the stated risks and to whether the stated capabilities translate into measurable commercial traction.

At ASHG, an early access customer from the London Health Sciences Center Research Institute will demonstrate the power of the 5-base genome for accelerating resolution of rare disease cases

Proprietary 5-base chemistry and novel DRAGEN algorithms enable dual-omic inquiry, providing researchers with new tool for precision medicine breakthroughs

SAN DIEGO, Oct. 15, 2025 /PRNewswire/ -- Illumina, Inc. (NASDAQ: ILMN) today 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 will present at the American Society of Human Genetics (ASHG) annual meeting in Boston, where he will illustrate 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" will be 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.

Use of forward-looking statements

This release may contain forward-looking statements that involve risks and uncertainties. Among the important factors to which our business is subject that could cause actual results to differ materially from those in any forward-looking statements are: (i) challenges inherent in developing and launching new products and services, including modifying and scaling manufacturing operations, and reliance on third-party suppliers for critical components; (ii) our ability to manufacture robust instrumentation and consumables; and (iii) the acceptance by customers of our newly launched products, which may or may not meet our and their expectations, together with other factors detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We undertake no obligation, and do not intend, to update these forward-looking statements, to review or confirm analysts' expectations, or to provide interim reports or updates on the progress of the current quarter.

About Illumina

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit illumina.com and connect with us on X, Facebook, LinkedIn, Instagram, TikTok, and YouTube.

Contacts

Investors:
Illumina Investor Relations
858-291-6421
IR@illumina.com

Media:
Christine Douglass
PR@illumina.com

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SOURCE Illumina, Inc.

FAQ

What is Illumina's 5-base solution (ILMN) announced October 15, 2025?

A dual-omic workflow that uses proprietary 5-base chemistry and DRAGEN algorithms to detect genomic variants and DNA methylation from a single sample.

Which Illumina kits are available for the 5-base solution and what do they do?

Illumina 5-Base DNA Prep offers whole-genome coverage; 5-Base DNA Prep with Enrichment enables targeted region focus; both detect methylation at single-base resolution.

Which sequencers support Illumina's 5-base workflows (ILMN)?

The 5-base library preparation and sequencing are compatible with NovaSeq Systems and the NextSeq 2000 System.

Who tested the Illumina 5-base solution during early access?

More than 50 early testers participated, including London Health Sciences Centre Research Institute researchers.

When and where will validation data for Illumina's 5-base solution be presented at ASHG 2025?

Presentation by Bekim Sadikovic titled 'Validation of integrated platform...' is scheduled October 15, 2025 in Room 153ABC from 12:00 to 1:00 PM ET.

What risks did Illumina cite about launching the 5-base solution (ILMN)?

Stated risks include manufacturing and scaling challenges, reliance on third-party suppliers, and uncertain customer acceptance.