Overview

The Illumina® DRAGEN™ TruSight™ Oncology 500 Analysis Software v2.1 supports local analysis for DNA and RNA libraries generated from formalin-fixed, paraffin-embedded (FFPE) tissue samples. The TruSight Oncology 500 assay is 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. DNA biomarkers include the following:

• Single nucleotide variants (SNVs)
• Insertions
• Deletions
• Copy number variants (CNVs)
• Exon-level CNVs
• Multinucleotide variants (MNVs)

TruSight Oncology 500 also detects immunotherapy biomarkers for tumor mutational burden (TMB) and microsatellite instability (MSI) in DNA. DNA library analysis outputs include TMB, variant call files for small and complex variants, MSI, and gene amplifications. With TruSight Oncology 500 Homologous Recombination Deficiency (HRD), genomic instability score (GIS) is also determined. Fusions and splice variants are detected in RNA of 55 genes and the RNA library analysis outputs include fusions and splice variant call files.

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

The DRAGEN TruSight Oncology 500 Analysis Software v2.1.1 allows for analysis on a single DRAGEN server or split across multiple servers.

TruSight Oncology 500 HRD is not available in all countries. For more information, refer to the TruSight Oncology 500 product page on the Illumina website or contact Illumina Technical Support.

The DRAGEN TruSight Oncology 500 Analysis Software v2.1.1 support pages on the Illumina support site provide information on compatibility with Illumina sequencing systems.

Use BCL Convert to produce FASTQ files for DRAGEN TruSight Oncology 500 Analysis Software v2.1.1. Using bcl2fastq does not produce the same results and is discouraged. Refer to DRAGEN TruSight Oncology 500 Analysis Software v2.1.1 support pages on the Illumina support site for settings and compatibility information for using DRAGEN TruSight Oncology 500 Analysis Software v2.1.1 with BCL Convert.