Running DRAGEN Enrichment for supplementary analysis

Overview and Prerequisites

Important: This how-to describes a supplemental research workflow for libraries prepared with spike-in probes added to TSO 500 enrichment (for example, MTAP probe spike-in). DRAGEN Enrichment can be used alongside standard TSO 500 analysis to call variants in spike-in target regions.

This workflow extends the standard TSO 500 pipeline and is intended for research use.

The TSO 500 HRD pipeline is built for the core TSO 500 panel with the option for HRD probe inclusion. To analyze additional target regions captured with spike-in probes, separately run DRAGEN Enrichment on the same sequencing data.

Follow this high-level workflow and choose a data analysis option under Step 3.

1. Prepare libraries using spike-in protocol (wet lab steps are outside the scope of this software how-to).

2. Sequence the run.

3. Choose a data analysis path:

   1. Run DRAGEN TSO 500 v2.6+ analysis as normal, then use the generated FASTQs to run DRAGEN Enrichment.

   2. Run BCL Convert first, then use the output FASTQs to run both TSO 500 and DRAGEN Enrichment analyses.

Spike-in analysis is currently available for TSO 500 Tissue. This how-to is written for general TSO 500 spike-in workflows; refer to specific add-on workflow pages (e.g., MTAP spike-in) for necessary resource files and other instructions.

Current Supplementary Analysis Resources

MTAP add-on workflow resources