Option C: Pre-Built Reference Files

If you do not have matched normal samples available, Illumina provides pre-built systematic noise files as part of the DRAGEN Bio-IT Platform product files. These reference files can serve as a starting point for evaluation, but they are not optimized for your specific library prep kit, target panel, or sequencer combination.

Considerations for Pre-Built Reference files

• Select a WES file if your panel targets only coding regions, or a WGS file if it includes non-coding regions.

• When possible, match the sample type to the sample type used to build the noise file. For example, if you have a Fresh Frozen (FF) sample use a reference file that comes from FF samples. If the reference file comes from a mix of Fresh Frozen and FFPE (FF/FFPE) samples it can be used with either.

  • The information about the DRAGEN pre-built noise files is in this link: Pre-built resource files

Where to Download

Pre-built noise files are available for download at the DRAGEN Bio-IT Platform product files page.

IMPORTANT. Using pre-built reference noise files will result in lower filtering performance compared to a noise baseline built from your own matched normal samples. This option is provided as a fallback for initial evaluation only. For production use, generate a custom noise file with Option A or Option B.