Illumina BioInsight Platform expands with new software to accelerate the path from sequencing to discovery

Early dnaAI research yielded an 8% increase in disease associations across unsolved cases.

Rhea-AI Summary

Illumina (NASDAQ: ILMN) introduced three early-access software capabilities on its BioInsight Platform for sequencing analysis, workflow automation and research across datasets.

The additions are DRAGEN Ultra, Workflow Orchestrator and Learning Cohorts. Illumina says DRAGEN Ultra will include dnaAI, a model that prioritizes genetic variants potentially explaining observed traits. Early research applying dnaAI to large-scale datasets yielded an 8% increase in disease associations across unsolved cases. The model ranked previously established disease-associated variants among its top four candidates in 99.4% of genomes analyzed. Workflow Orchestrator connects sequencing and analysis processes, while Learning Cohorts supports investigation across private sample collections.

Positive

• Minor pointdnaAI early research yielded an 8% increase in disease associations across unsolved cases.
• Minor pointdnaAI ranked established disease-associated variants among its top four candidates in 99.4% of genomes analyzed.

Negative

• Minor pointThe three new capabilities are available to early-access customers, rather than generally available.

Key Figures

Early-access capabilities: 3 capabilities Increase in disease associations: 8% Genomes with established variants among top four candidates: 99.4%

Early-access capabilities

3 capabilities

BioInsight Platform expansion

Increase in disease associations

8%

Across unsolved cases using dnaAI on large-scale datasets

Genomes with established variants among top four candidates

99.4%

Genomes analyzed by dnaAI

Historical Context

1 past event · Latest: Oct 14

1 event

1. Oct 14

   Platform launch

   24h Move

   +0.2%

   Launched a unified genomic and multiomic software environment, establishing the platform expanded by today's early-access tools.

24h Move is the share-price change in the day after each event; other market factors may also have contributed.

Key Terms

variant calling, phenotype, air-gapped environments, secondary analysis

4 terms

variant calling technical

"extends genomic analysis beyond variant calling"

Variant calling is the process of analyzing DNA sequencing data to identify differences—mutations or alterations—between a sample’s genetic code and a standard reference. Think of it like a spell‑checker that flags changed words in a very long document; for investors, accurate variant calling matters because it underpins diagnostic tests, drug target validation, clinical trial patient selection and regulatory filings, all of which affect a biotech company’s value and risk profile.

phenotype medical

"predicts which variants are most likely to explain an observed phenotype"

Phenotype is the set of observable traits or measurable characteristics of an organism—such as appearance, behavior, disease signs, or lab measurements—produced by the interaction of its genes and the environment. For investors, phenotype matters because drugs, diagnostics, or agricultural products are judged by the tangible changes they produce; clear, consistent improvements in phenotype (think of a recipe’s final cake rather than the written recipe) help drive regulatory approval, market uptake, and revenue.

air-gapped environments technical

"customer premises, private clouds, and air-gapped environments"

Air-gapped environments are computing systems or networks physically isolated from the internet and other external connections, like a computer kept in a locked room with no cables to the outside. Investors should care because this isolation greatly reduces hacking and data-leak risk but also makes software updates, data transfers, and collaboration slower or more costly, which can affect operational flexibility, compliance costs, and project timelines.

secondary analysis technical

"sequencing and analysis"

An analysis that uses data already collected in a study or trial to examine questions, outcomes, or hypotheses other than the study's pre-specified primary analysis. It includes evaluation of secondary endpoints, subgroup or exploratory analyses, or new statistical approaches applied to the same dataset; because it is not the trial's primary pre-specified test, its findings are generally considered supportive or hypothesis‑generating rather than the definitive result required for regulatory approval or a primary claim.

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DRAGEN Ultra, BioInsight Platform Workflow Orchestrator, and BioInsight Platform Learning Cohorts are now available in early access, incorporating new AI-driven approaches to analysis, automation, and discovery

The tools automate end-to-end informatics processes at scale and help customers build private data lakes to drive scientific and clinical research insights

SAN DIEGO, Oct. 21, 2026 /PRNewswire/ -- Illumina, Inc. (NASDAQ: ILMN) today introduced three early-access capabilities on its BioInsight Platform that help researchers move faster from sequencing data to discovery. BioInsight Platform Workflow Orchestrator enables laboratories to operate consistent, traceable sequencing and informatics operations at scale. DRAGEN Ultra extends genomic analysis beyond variant calling, using Illumina AI models and knowledge resources to prioritize candidate variants, and sort large numbers of research samples. BioInsight Platform Learning Cohorts, paired with the previously announced BioInsight Data, helps researchers investigate patterns across large genomic, multiomic, and phenotypic datasets, placing individual findings in their more informative biological and population context.

Together, the capabilities help research organizations operate consistent, efficient genomic workflows at scale, focus investigation on the samples and variants that matter, and place those findings in the context of larger genomic and multiomic populations.

"The promise of genomics depends on generating vast and complex data, then distilling that data into insights that advance discovery," said Rami Mehio, senior vice president and general manager of BioInsight at Illumina. "Researchers need consistent, scalable, reproducible workflows, AI that helps identify the samples and findings that matter most, and the ability to study those samples across increasingly large and diverse cohorts. We've put all our new development energy into new capabilities to make it easy to scale insight generation, so research organizations can focus on advancing the science rather than assembling and maintaining software."

The Illumina BioInsight Platform, which debuted last week, offers a suite of genomic and multiomics software tools and data sources. Researchers can choose the capabilities they need and link them together, designing workflows that best suit their science and adding capabilities as their programs grow.

BioInsight Platform Workflow Orchestrator enables connection to Illumina sequencers for automated, scaled genomics operations

As datasets grow and workflows become more complex, research organizations need consistent quality, reproducibility, and traceability at every stage of sequencing and analysis.

The new workflow orchestration software is designed to run each genomic analysis as a connected process, from sample tracking, through sequencer run planning, secondary analysis, quality control, and tertiary software for insight generation. A visual workflow builder allows customers to start from an Illumina authored template and configure specific parameters to reflect their individual lab innovations. Lab scientists define the workflow and the software executes it efficiently, consistently, and compliantly across tens of thousands of samples, enabling teams to scale operations without adding complexity.

In Workflow Orchestrator, each sample maintains a single identity across software tools, providing complete result lineage covering the inputs, software versions, settings, and quality metrics that produced them. This gives research organizations a reproducible, audit-ready operational foundation for genomic analysis.

DRAGEN Ultra extends analysis beyond variant calling 

For over a decade, DRAGEN has provided industry leading performance, accuracy, and capabilities in the field of genomic secondary analysis. The new DRAGEN Ultra capability extends genomic analysis beyond variant calling by combining Illumina genomic AI models and proprietary knowledge resources to help prioritize variants for further investigation, accelerating the path from variant identification to genomic insights. DRAGEN Ultra is available on the Illumina BioInsight Platform as well as customer premises, private clouds, and air-gapped environments.

Now in early access, the technology is designed to support a range of research applications, including rare disease, population genomics, and multiomic studies. By integrating annotation and prioritization with variant calls, DRAGEN Ultra provides more complete insights for large scale projects.

DRAGEN Ultra will include dnaAI, a new variant prioritization model that predicts which variants are most likely to explain an observed phenotype. Developed by the BioInsight AI Lab, the new model was featured in a plenary session at ASHG, where Illumina revealed early research findings from the model. Applying dnaAI to large scale datasets resulted in an 8% increase in disease associations across unsolved cases. The model also ranked previously established disease-associated variants among its top four candidates in 99.4% of genomes analyzed. In addition to the new dnaAI feature, DRAGEN Ultra also draws on Illumina models designed to address distinct classes of biological variation, including PrimateAI-3D, PromoterAI, and the newly announced SpliceAI2.

BioInsight Platform Learning Cohorts tool reveals patterns beyond the individual sample 

The Learning Cohorts tool, also in early access, will help researchers move beyond single sample evaluation and into dynamic knowledge generation in which every sample informs future discovery. Researchers can explore genomic, multiomic, and associated phenotypic data across large private sample collections, compare individual observations with broader populations, and investigate associations that may not be visible within any one sample. The Learning Cohorts tool makes capabilities available to private researchers that were traditionally only available with large public cohorts.

Researchers can begin with a scientific question, identify relevant populations from available datasets, and dynamically build cohorts for further analysis. For example, a researcher investigating a rare variant can identify subjects sharing similar genomic features or phenotypes, compare outcomes across groups, and explore associations that may warrant further study. This approach supports a shift from executing analyses on predetermined groups to discovering and investigating populations at scale.

Previously announced BioInsight Data adds curated reference datasets that researchers can use to enrich institutional cohorts and place findings in broader biological and population contexts. Together, the Learning Cohorts tool and BioInsight Data allow researchers to examine patterns across datasets, generate new hypotheses, and build research resources that become more informative as additional genomic, multiomic, and phenotypic data are added.

The three new applications are available for early access customers via the Illumina BioInsight Platform.

Illumina introduced the capabilities at the annual meeting of the American Society of Human Genetics (ASHG) in Montréal.

ASHG attendees can learn more about DRAGEN Ultra, BioInsight Workflow Orchestrator, and Learning Cohorts at Illumina booth #701 and during Illumina's Industry Education session on Friday, Oct 23, 12:15 PM–1:15 PM (ET) in Room 513 ABC. Learn more about the Illumina BioInsight Platform here.

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

AI-generated questions and answers. How Rhea-AI works. Not financial advice.

What new BioInsight Platform tools did Illumina introduce?

Illumina introduced DRAGEN Ultra, Workflow Orchestrator and Learning Cohorts, all available in early access. They address genetic variant analysis, connected sequencing workflows and research across genomic, multiomic and associated phenotypic datasets.

Where can Illumina DRAGEN Ultra run?

DRAGEN Ultra is available on the Illumina BioInsight Platform, on customer premises, in private clouds and in air-gapped environments.