Analysis Methods

DRAGEN TSO 500 on ICA uses the following workflows to analyze sequencing data.

• 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 For more information on analysis methods, refer to the ADD LINK TO ANALYSIS METHODS