Illumina DRAGEN v4.4 powers clinical oncology research and multiomic applications
- 30% improvement in structural variant calling accuracy
- 20% boost in single nucleotide variant (SNV) and indel calling accuracy
- New out-of-the-box oncology applications simplifying clinical research workflows
- Enhanced cloud performance with AWS F2 support
- Validation through peer-reviewed study in Nature Biotechnology
- None.
Insights
Illumina boosts DRAGEN software with 30% improved variant calling and ready-to-use oncology applications, enhancing its market-leading position.
Illumina's DRAGEN v4.4 release represents a meaningful advancement in their bioinformatics portfolio, with the 30% improvement in structural variant (SV) calling accuracy being particularly significant. This enhancement helps narrow the gap between short-read and long-read sequencing capabilities, potentially expanding Illumina's addressable market by improving short-read technology capabilities in an area traditionally dominated by long-read platforms.
The introduction of pre-configured, out-of-the-box oncology applications addresses a critical pain point in clinical genomics workflows. By simplifying complex oncology analysis, Illumina reduces the bioinformatics expertise barrier that many clinical labs face, potentially accelerating adoption in hospital settings. The specific inclusion of the first commercially available heme WGS application gives Illumina a competitive advantage in the hematological cancer testing market.
The integration with Illumina Connected Insights platform creates an end-to-end solution that strengthens Illumina's ecosystem strategy, making customer switching costs higher. The University Hospital of Tübingen partnership provides real-world validation, focusing on clinical utility rather than just technical performance—a strategic move as reimbursement increasingly depends on demonstrable clinical impact.
Support for AWS F2 instances indicates Illumina's recognition of cloud computing's growing importance in genomic analysis, allowing customers more flexibility in computational resource allocation and potentially reducing their on-premises infrastructure costs.
For Illumina's business model, these software improvements represent higher-margin additions to their core sequencing business, creating potential for expanded revenue streams without the capital intensity of hardware development.
Building on reputation for unparalleled performance, latest software delivers even greater accuracy, with
New features include easy-to-use oncology apps, enhanced multiomics pipelines, and AWS F2 support enabling faster turnaround times
"DRAGEN has pushed the limits in what is possible in complex genomic data analysis, while making bioinformatics more accessible and easier to use," said Rami Mehio, head of Global Software and Informatics at Illumina. "With DRAGEN v4.4 we make bioinformatics even easier for complex oncology workflows and multiomics analysis. With out-of-the-box oncology applications, customers can set up their clinical research tests with a fraction of the effort typically required and obtain meaningful insights in record time."
Providing labs with ready-to-use analysis applications simplifies oncology biomarker detection and reduces complexities for customers. The applications integrate with the Illumina Connected Insights platform, allowing for a fully streamlined analysis and interpretation workflow, and enabling efficient and complete discovery and clinical research solutions across a wide range of customer segments, including genetic disease, oncology, multiomics, infectious disease, and population genomics.
University hospital selects DRAGEN for pioneering clinical impact study
The University Hospital of Tübingen (UHT) in
Researchers will compare the diagnostic yield of WGS processed with DRAGEN v4.4 and WGS processed initially using their existing, in-house analysis software pipeline. DRAGEN germline analysis is regarded as the most accurate variant calling tool available for germline WGS testing. This was demonstrated in a peer-reviewed study published in Nature Biotechnology in October 2024, "Comprehensive genome analysis and variant detection at scale using DRAGEN," which validated DRAGEN software's germline algorithms and proved their superior performance in providing a more comprehensive genome with higher accuracy and faster reads compared to eight other variant calling programs in the study.
"Whole-genome germline testing holds tremendous value to deliver critical diagnostic insights and risk factors across a wide range of disease areas, but we believe there are still significant insights hiding in the data because we haven't had the tools to fully understand them before," said Marc Sturm, head of Bioinformatics for Diagnostics at Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen,
"This study is a cornerstone in demonstrating the clinical utility of variant calling software for germline testing," Mehio said. "DRAGEN is the established leader in variant calling accuracy, and we'll now examine the potential clinical impact that our technology can offer."
Key features of DRAGEN v4.4
- Preconfigured applications: DRAGEN v4.4 will offer "push-button" analysis for oncology workflows, including the first and only commercially available heme WGS application, Solid WGS DNA Tumor-Normal, and pipelines for molecular residual disease (MRD), WGS analysis, with more coming soon.
- New multiomics pipelines: Support for new and emerging multiomics assays includes Illumina Single Cell 3'RNA Prep, Illumina Protein Prep, and in the future will support the anticipated 5-base solution for methylation analysis, and Illumina's spatial technology solution. DRAGEN outputs work seamlessly with Illumina Connected Multiomics to further explore and visualize the data.
- Unparalleled accuracy in structural variant (SV) calling: DRAGEN v4.4 marks a
30% increase in SV calling accuracy—the software's biggest leap to date—driven by advancements in the multigenome mapper with pangenome reference. These advances help close the gap in structural variant calling accuracy between short- and long-read sequencing capabilities. - Small variant calling accuracy improvement: DRAGEN v4.4 introduces a personalized pangenome reference capability that delivers a
20% boost in accuracy of single nucleotide variant (SNV) and indel calling. - Accelerated cloud analysis: DRAGEN v4.4 supports new AWS F2 instance types, enabling faster turnaround times and improved scalability in the cloud.
Visit the DRAGEN web page to learn more.
About DRAGEN Secondary Analysis
Illumina DRAGEN secondary analysis is a leading suite of bioinformatics pipelines and applications for next-generation sequencing data. Its continuous innovations have set new standards for accuracy, comprehensiveness, and efficiency. DRAGEN analysis delivers the highest accuracy for germline and somatic variant calling, as demonstrated in industry challenges from PrecisionFDA. Featuring built in AI, with machine learning-based variant recalibration for germline SNV variant calling, DRAGEN is available across multiple deployment options, from a standalone server to Illumina cloud solutions and onboard select sequencers.
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, manufacturing, and launching new products and services; (ii) customer uptake of, and satisfaction with, new products and services; and (iii) legislative, regulatory and economic developments, 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.
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PR@illumina.com
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SOURCE Illumina, Inc.
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