Introduction to DRAGEN TSO 500 Analysis Software v2.6.0

Overview

DRAGEN TruSight™ Oncology 500 Analysis Software supports data analysis for TruSight Oncology 500 Assay and TruSight Oncology 500 High-Throughput Assay, both 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 biomarkers.

In addition, this software supports data analysis for TruSight Oncology 500 HRD (RUO), an optional add-on kit to TruSight Oncology 500, that enables detection of homologous recombination deficiency (HRD) through assessment of a genomic instability score (GIS).

TruSight Oncology 500 HRD is 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) *

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)*

• Tumor fraction*

• Ploidy*

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 HRD add-on kit

Local and Cloud Deployments

Local analysis is available using a standalone DRAGEN server or an application with a user interface 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.