Building on reputation for unparalleled performance, latest software delivers even greater accuracy, with 30% improvement in structural variant calling

New features include easy-to-use oncology apps, enhanced multiomics pipelines, and AWS F2 support enabling faster turnaround times

 Illumina Inc.  announced the launch of DRAGEN™ version 4.4 software (v4.4), the industry's most comprehensive secondary analysis solution. The latest version of DRAGEN includes out-of-the-box oncology applications for clinical research and support for newly announced Illumina multiomics assays. Additionally, DRAGEN v4.4 continues DRAGEN's best-in-class accuracy with a 30% improvement in germline structural variant calling accuracy. DRAGEN v4.4 enhancements will simplify NGS analysis for customers while expanding their capabilities.

"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 Germany is among the first adopters of the latest version of DRAGEN. UHT researchers have selected DRAGEN for a first-of-its-kind study to evaluate the clinical utility of advanced secondary analysis on whole-genome germline testing. Germline testing can help identify inherited genetic mutations that increase an individual's risk of developing certain cancers or other health conditions.

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, Germany. "We're eager to bring the power of DRAGEN and its sophisticated AI capabilities to this challenge, to deepen our understanding of the insights that can be generated from germline testing."

"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.