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Illumina Unveils its Most Accurate and Comprehensive Secondary Analysis Platform, Boosting Lab Capabilities

publication date: Aug 11, 2022
author/source: Illumina



DRAGEN™ v4.0 brings greater accuracy, comprehensiveness, and efficiency to genomic analysis than ever before, unlocking the full potential of genomics to improve human health 

Illumina, Inc., a global leader in DNA sequencing and array-based technologies, announces the release of Illumina DRAGEN™ v4.0, its most accurate and comprehensive secondary analysis platform. The new features expand laboratories' abilities to perform analyses in key areas such as oncology, pharmacogenomics (PGx), single-cell sequencing, and population genomics within a single platform.

"Innovation is at the core of what we do at Illumina and we've made DRAGEN v4.0 even more comprehensive, accurate, and efficient to offer our customers unmatched breadth and functionality," said Alex Aravanis, chief technology officer, head of Research and Product Development at Illumina. 

Illumina DRAGEN is a leading secondary analysis software in the genomics market, and its continuous innovations have set new standards for accuracy and efficiency. With availability across multiple access points, from a standalone server to Illumina cloud solutions and onboard select sequencers, DRAGEN streamlines sequencing data acquisition and analysis. 

DRAGEN v4.0 unlocks the power of genomics for Illumina customers by providing an expanded suite of capabilities, including: 

  • Expanded PGx capabilities – DRAGEN v4.0 enables the calling of 20 Tier 1 genes (CPIC Level A genes). It also supports the genotyping of complex PGx genes and powers insights for optimal genotype and corresponding metabolism status.
  • Boosted whole-genome sequencing (WGS) and genetic disease insights – Short tandem repeat (STR) expansions are a major cause of more than 20 severe neurological disorders. DRAGEN v4.0 now integrates the latest Expansion Hunter v5 with an expanded catalog of STR loci such as Bean1, a gene implicated in spinocerebellar ataxias.
  • Improved access to WGS – The new end-to-end imputation pipeline allows researchers and labs of all sizes to leverage the power of the platform with low-pass sequencing data.
  • Simultaneous profiling of transcriptome and epigenome – DRAGEN v4.0 introduces two new pipelines: single-cell ATAC-Seq and single-cell multiomics. The DRAGEN single-cell ATAC-Seq pipeline enables single-cell resolution profiling of chromatin accessibility, and it now can be run in combination with DRAGEN's single-cell RNA-Seq pipeline as part of the single-cell multiomics pipeline.

Illumina customers are eager to leverage the latest DRAGEN technology. "Cardio-CARE's core team of bioinformaticians have used DRAGEN for more than two years to advance our mission to better understand the genetic basis of cardiovascular disease (CVD)," said Andreas Ziegler, scientific director of Cardio CARE. "We have found DRAGEN to be fast and easy to use, and it also provides exceptionally good performance in mapping and aligning both single-nucleotide variation and short insertions/deletions. We are excited to see how the advanced functionality of DRAGEN v4.0 will help deliver on our promise to improve CVD diagnosis and identify drug targets for the top cause of death in the world today." Visit the DRAGEN page to learn more.


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.



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