FAQs

This page describes Frequently Asked Questions (FAQs) related to Illumina TruPath Genome Software.

• Can any Illumina sequencing data be analyzed with TruPath Genome?

  • No, Illumina TruPath Genome analysis software via DRAGEN Germline must be used with sequencing data generated with the Illumina TruPath Genome assay. Using non-TruPath data or regular Illumina SBS data inputs will lead to analysis failure.

• What type of analysis is supported?

  • Only DRAGEN Germline analysis is supported at this time. Please refer to the DRAGEN User Guide linked here for additional information on supported analyses.

• What happens if I analyze standard short-read data with the DRAGEN Germline pipeline?

  • Analyzing short-read data with the DRAGEN Germline pipeline with proximity mode enabled will lead to analysis failure. The DRAGEN Germline pipeline with proximity mode enabled must be used with TruPath inputs only.

• What metrics should be assessed to understand assay performance?

  • Key Metrics that describe if the assay performed well include NG50, Template Length, and Proximity Coverage. These metrics are output in the DRAGEN Reports for each analysis. For more information on DRAGEN Reports, visit this link here. For more information on the assay itself and related metrics, visit this link here.

• Is Illumina TruPath Genome compatible with ICM?

  • Currently Illumina Connected Multiomics (ICM) does not support analysis results from the Illumina TruPath Genome.

• Is Emedgene (EMG) compatible with TruPath DRAGEN outputs?

  • Yes, Emedgene v40 is compatible with TruPath DRAGEN outputs. Results from secondary analysis may be ingested automatically similar to any other workflow. For additional information on Emedgene v40, please visit the Emedgene User Guide linked here.

• Where is the data visualized?

  • Depending on which output files desired for visualization, secondary analysis outputs may be visualized via IGV, Dragen Reports or HiGlass. Please see the child pages under Data Visualization and Analysis for further details.