Illumina Inc. has officially announced the launch of DRAGEN™ version 4.4 software (v4.4), which happens to be the industry’s most comprehensive secondary analysis solution.
According to certain reports, this latest version of DRAGEN packs together out-of-the-box oncology applications for clinical research, along with support for newly announced Illumina multiomics assays. More on the same would reveal how DRAGEN v4.4 gets to bank upon DRAGEN’s best-in-class accuracy with a 30% improvement in germline structural variant calling accuracy.
All in all, DRAGEN v4.4 enhancements will tread up a long distance to simplify NGS analysis for customers, while simultaneously 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.”
Talk about the whole value proposition on a slightly deeper level, we begin from the availability of preconfigured applications. This translates to how DRAGEN v4.4 arrives on the scene bearing an ability to offer “push-button” analysis for oncology workflows, including the first and only commercially available heme WGS application, Solid WGS DNA Tumor-Normal, pipelines for molecular residual disease (MRD), and WGS analysis.
Next up, we have new multiomics pipelines coming into play. Here, the technology in question effectively delivers support for new and emerging multiomics assays, such as Illumina Single Cell 3’RNA Prep, and Illumina Protein Prep, In case that wasn’t enough, the solution will soon also have the means to support the anticipated 5-base solution for methylation analysis and Illumina’s spatial technology solution.
Beyond that, we must be acknowledged that DRAGEN outputs work seamlessly with Illumina Connected Multiomics to further explore and visualize the data.
Another detail worth a mention is rooted in the potential for unprecedented accuracy in structural variant (SV) calling: Now, we referred to howDRAGEN v4.4 marks a 30% increase in SV calling accuracy, but what we haven’t touched upon yet is that it also happens to be software’s biggest leap till date, driven by advancements in the multigenome mapper with pangenome reference.
Hold on, we still have a few bits left to unpack, considering we haven’t yet discussed the improvements across small variant calling. You see, DRAGEN v4.4 brings to the fore a personalized pangenome reference capability, which delivers a 20% boost in accuracy of single nucleotide variant (SNV) and indel calling.
Rounding up highlights would be an accelerated brand of cloud analysis. We get to say so because DRAGEN v4.4 now supports new AWS F2 instance types, enabling faster turnaround times and improved scalability in the cloud.
Markedly enough, University Hospital of Tübingen (UHT) in Germany would emerge as one of the first adopters of the latest version of DRAGEN. UHT researchers basically selected DRAGEN for a first-of-its-kind study to evaluate the clinical utility of advanced secondary analysis on whole-genome germline testing.
In case that wasn’t enough, germline testing has been tipped as well-equipped to identify inherited genetic mutations that, on their part, can increase an individual’s risk of developing certain cancers or other health conditions.
Moving forward, 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.
Among other things, we ought to share that DRAGEN v4.4 will join Illumina DRAGEN secondary analysis suite, which happens to be a leading suite of bioinformatics pipelines and applications for next-generation sequencing data.
”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 deepen our understanding of the insights that can be generated from germline testing.”