• DRAGEN
  • News
  • 03/09/2022

Maximize Genomic Insights with DRAGEN v3.10

Author:
  • Deepthi Shankar

DRAGEN v3.10 is here! We’ve hinted at the release in the Illumina presentation at JPM 2022 and gave a preview of accuracy improvements in a technical deep dive in a recent article on our Genomics Research Hub. Now you can access the latest software and learn more in our release webinar.

Illumina is committed to driving innovations that enable our customers to maximize insights from their sequencing data. For DRAGEN, this means that we are continually striving to push the boundaries of mapping and variant calling accuracy as well as expanding our suite of pipelines and targeted callers.

With DRAGEN v3.10, we take a leap forward in demonstrating what is possible when applying powerful, cutting-edge algorithmic approaches to Illumina sequencing data. As we’ve written about before, Illumina DRAGEN mapper + variant caller won the PrecisionFDA Truth Challenge V2 accuracy contest for Illumina reads in the Difficult-to-Map Regions and All Benchmark regions, with 38% and 28% fewer call errors than the second-best contestants, respectively. With DRAGEN v3.10, we release a machine learning beta feature and improvements to graph genome mapping that propel DRAGEN to lead accuracy across all read technologies in All Benchmark regions and the MHC region using the PrecisionFDA Truth Challenge V2 data.

Figure 1: Accuracy of DRAGEN 3.10 Graph and ML compared to the PrecisionFDA Truth Challenge v2 submissions in the ‘All benchmark regions’.
Figure 2: Accuracy of DRAGEN 3.10 Graph and ML compared to the precisionFDA v2 submissions in the MHC region.

Take a deeper dive into the PrecisionFDA Truth Challenge V2, the data, and the DRAGEN innovations leading to our accuracy improvements here.

In addition to accuracy improvements, DRAGEN v3.10 is also introducing these new features and enhancements:

  • New GBA caller - detect both recombinant and non-recombinant Gaucher disease-causing variants in GBA gene and its paralog GBAP1.
  • RNA Amplicon pipeline – identify RNA amplicon targeted fusions with advanced gene fusion caller.
  • 10x scalability improvements in cloud-based PopGen workflows - genotype 100 thousands to millions of gVCFs, and add aggregate new batches with ease.
  • Germline variant filtering – annotate potential germline variants in somatic variant calling
  • Nucleotide error bias correction – compensate for biased nucleotide error rates due to oxidation/deamination
  • DRAGEN ORA Compression improvements – lossless data compression with reduced storage and CPU consumptions.

This latest release of DRAGEN v3.10 is part of Illumina’s commitment to bring innovative technologies to market and enable our customers to unlock the power of the genome. With highly accurate, comprehensive, and efficient workflows, DRAGEN continues to remove bioinformatics roadblocks and extract more information from the genome.

Learn more about the benefits and applications supported by DRAGEN, and request a consultation with our experts to help you find the right DRAGEN toolset for your needs.

For Research Use Only, Not for use in Diagnostic Purposes

References:

https://precision.fda.gov/challenges/10

https://www.illumina.com/science/genomics-research/articles/dragen-shines-again-precisionfda-truth-challenge-v2.html