Introduction to DRAGEN TSO 500 Analysis Software v2.6.x

Scope

This resource provides information on installation, configuration, running, troubleshooting and analysis algorithms for the following software:

• DRAGEN TruSight Oncology 500 Analysis Software v2.6.0

  • for standalone DRAGEN server

  • on Illumina Connected Analytics (ICA)

  • on NovaSeq 6000Dx v2.6.0 (uses a paired DRAGEN server)

• DRAGEN TruSight Oncology 500 Analysis Software on Illumina Connected Analytics (ICA) v2.6.0.8

• DRAGEN TruSight Oncology 500 Analysis Software v2.6.1 (for standalone DRAGEN server)

• DRAGEN TruSight Oncology 500 Analysis Software v2.6.2

  • for standalone DRAGEN server

  • on Illumina Connected Analytics (ICA)

  • on NovaSeq 6000Dx (uses a paired DRAGEN server)

The content is applicable to all software versions unless otherwise specified. The content related to setting up and running the analysis on ICA is only relevant to v2.6.0.

Overview

DRAGEN TruSight™ Oncology 500 Analysis Software supports data analysis for TruSight Oncology 500 Assay , TruSight Oncology 500 High-Throughput Assay, and TruSight Oncology 500 v2 Assay all Research Use Only (RUO).

The software provides local and cloud analysis for DNA and RNA libraries generated from formalin-fixed, paraffin-embedded (FFPE) tissue samples. The assays and the software are optimized to provide high sensitivity and specificity for low-frequency somatic variants across coding exons and additional regions of biological relevance in 523 genes for DNA and RNA biomarkers.

In addition, this software supports data analysis for TruSight Oncology 500 HRD (RUO), which enables detection of homologous recombination deficiency (HRD) through assessment of a genomic instability score (GIS). TSO 500 HRD is available as an optional library prep in TruSight Oncology 500 v2 or as an add-on kit to TruSight Oncology 500.

TruSight Oncology 500 v2 and TruSight Oncology 500 HRD are not available in Japan.

DNA biomarkers

• Single nucleotide variants (SNVs)

• Insertions

• Deletions

• Copy number variants (CNVs)

• Exon-level CNVs

• Multinucleotide variants (MNVs)

• Genomic Instability Score (GIS Score) *

• Tumor fraction*

• Ploidy*

DNA Immunotherapy biomarkers

• Tumor mutational burden (TMB)

• Microsatellite instability (MSI)

RNA biomarkers (called from 55 genes)

• Fusions

• Splice variants

Beta features

• Absolute copy numbers (ACN)*

• Loss of heterozygosity (LOH)*

Details of the regions covered by the assays can be found in the assay manifest file. Contact your local Illumina representative for more information.

*Requires TruSight Oncology 500 v2 kit or TruSight Oncology 500 HRD add-on kit

Local and Cloud Deployments

Local analysis is available using a standalone DRAGEN server or Illumina Run Manager which is a user interface installed on NovaSeq 6000Dx. The software on the standalone DRAGEN server allows for analysis on a single DRAGEN server or splitting across multiple servers.

Cloud analysis is available on Illumina Connected Analytics with auto-launch or manual launch. Both methods are available from BCLs and FASTQs.

Instrument Compatibility

DRAGEN TruSight Oncology 500 analysis software is compatible with data generated on the Illumina instruments as summarized in the table below.

Instrument	Illumina Connected Analytics	Standalone DRAGEN Server	Paired DRAGEN server	On-board DRAGEN
NextSeq 550Dx (RUO mode)	Yes	Yes	No	N/A
NextSeq 500/550	Yes	Yes	N/A	N/A
NovaSeq 6000	Yes	Yes	N/A	N/A
NovaSeq 6000Dx (RUO mode)	Yes	Yes	Yes	N/A
NextSeq 1000/2000	Yes	Yes	N/A	No
NovaSeq X	Yes	Yes	N/A	No

Navigation of Guide

This resource provides information on installation, configuration, running, troubleshooting as well as analysis algorithms of DRAGEN TruSight Oncology 500 analysis software on Illumina Connected Analytics, standalone DRAGEN server, and the NovaSeq 6000Dx analysis application.