Illumina, Inc. announced 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. 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.