The new software aims to streamline genomic analysis, help researchers identify disease-related genetic variants, and support studies involving large datasets.
Illumina has introduced three early-access software capabilities on its BioInsight Platform designed to automate informatics processes and accelerate research from sequencing data to discovery. The company announced the new tools at the annual meeting of the American Society of Human Genetics in Montréal.
The additions include BioInsight Platform Workflow Orchestrator, DRAGEN Ultra, and BioInsight Platform Learning Cohorts, which build upon the BioInsight Platform that debuted the prior week. Together, the applications aim to help laboratories operate consistent, traceable sequencing workflows, prioritize relevant variants, and evaluate findings across multiomic populations.
“The promise of genomics depends on generating vast and complex data, then distilling that data into insights that advance discovery,” says Rami Mehio, senior vice president and general manager of BioInsight at Illumina, in a release. “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.”
Automated Workflow Orchestration and Traceability
The BioInsight Platform Workflow Orchestrator connects directly to Illumina sequencers to manage end-to-end genomic analysis as a unified process. The software spans sample tracking, sequencer run planning, secondary analysis, quality control, and tertiary software for insight generation.
Laboratories can use a visual workflow builder to start from Illumina-authored templates and configure parameters to suit specific operational requirements. Within the tool, each sample retains a single identity across tools, establishing complete result lineage that tracks inputs, software versions, settings, and quality metrics to provide an audit-ready operational foundation across tens of thousands of samples.
Variant Prioritization with DRAGEN Ultra
The new DRAGEN Ultra extends secondary genomic analysis beyond variant calling by incorporating artificial intelligence models and proprietary knowledge bases to prioritize candidate variants and sort research samples. It is deployable on the Illumina BioInsight Platform, customer premises, private clouds, and air-gapped environments.
DRAGEN Ultra incorporates dnaAI, a variant prioritization model developed by the BioInsight AI Lab that predicts which variants are most likely to explain an observed phenotype. In research presented at ASHG, applying dnaAI to large-scale datasets yielded an 8% increase in disease associations across unsolved cases, and the model ranked previously established disease-associated variants among its top four candidates in 99.4% of analyzed genomes. The tool also leverages specialized Illumina models for distinct classes of biological variation, including PrimateAI-3D, PromoterAI, and SpliceAI2.
Population-Scale Cohort Analysis
The third tool, BioInsight Platform Learning Cohorts, allows investigators to analyze genomic, multiomic, and phenotypic data across large private sample collections. By pairing the tool with BioInsight Data reference datasets, users can dynamically construct cohorts based on shared genomic features or phenotypes rather than relying solely on predetermined study groups.
This structure enables researchers to compare single-sample observations against wider populations, detect subtle associations, and generate new hypotheses as additional institutional data accumulate. All three tools are currently accessible to early-access customers through the BioInsight Platform.
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