Analysis Methods

DRAGEN TruSight Oncology 500 Analysis Software uses the following workflows to analyze sequencing data.

• FASTQ Generation

• DNA Analysis

  • DNA Alignment and Realignment

  • Read Collapsing

  • Indel Realignment and Read Stitching

  • Small Variant Calling

  • Small Variant Filtering

  • Copy Number Variant (CNV Calling

  • Phased Variant Calling

  • Variant Merging

  • Annotation

  • Tumor Mutational Burden (TMB Scoring

  • Microsatellite Instability (MSI Status

  • Contamination Detection

• RNA Analysis

  • Downsampling

  • Read Trimming

  • Alignment

  • Duplicate Marking

  • Fusion Calling

  • RNA Fusion Filtering

  • Splice Variant Calling

  • Annotation

  • Fusion Merging

• Quality Control

  • Run QC

  • DNA Sample QC

  • RNA Sample QC

For more information on analysis methods, refer to the [Illumina DRAGEN Analysis Workflows Documentation.](ADD LINK to analysis workflow )