Introduction

Illumina TruPath Genome Software Product Overview

Illumina TruPath Genome Software

Illumina TruPath Genome Software delivers a comprehensive whole-genome sequencing solution by integrating NovaSeq X sequencing, DRAGEN secondary analysis, and Emedgene interpretation all within the Illumina software ecosystem.

Pre-Sequencing

Illumina TruPath Genome C2 and C8 Flow Cells are supported via the NovaSeq X Sequencing Systems. Sequencing must be performed on the NovaSeq X Instrument Series using the 1.4 Software Package.

Secondary analysis via DRAGEN Germline may be performed via the following:

• In the Cloud, via BaseSpace Sequence Hub (BSSH) Run Planning via Autolaunch or in Illumina Connected Analytics (ICA). A cloud account with a valid subscription is required for running analysis via BSSH or ICA. For information on registering for a BaseSpace Sequence Hub or Illumina Connected Analytics account, refer to the Software Registration page

• On-Prem Server, via DRAGEN Server. Note that Illumina TruPath Genome Software requires a v4 DRAGEN Server for on-prem analyses. For more information on v4 DRAGEN Servers, please refer to DRAGEN 4.5 User Guide

Secondary Analysis

DRAGEN Germline v4.5 supports secondary analysis of TruPath data; analysis may be performed on-premise via local DRAGEN server or in the cloud (BaseSpace Autolaunch or ICA). For more information on DRAGEN Secondary Analysis, please refer to DRAGEN 4.5 User Guide

DRAGEN Germline v4.5 currently supports Illumina TruPath Genome, and can be run with different variant calling configurations:

• Human Copy Number Variant and Structural Variant Calling, includes filtering via colocation

• Human Small Variant Calling including Multi-Region Joint Detection (MRJD) calling

• Human No Variant Calling, Map / Align with enhanced phasing capabilities

Data Visualization

TruPath data provides novel variant calling results which may be visualized using third-party tools such as IGV and HiGlass. DRAGEN Reports also offers novel visualizations for DRAGEN's Multi-Region Joint Detection (MRJD) calling. Refer to the child pages in the "Data Visualization and Analysis" section.

Interpretation

Tertiary analysis and interpretation may be performed in Emedgene (EMG), with TruPath secondary analysis outputs ingestible by Emedgene. For more information on EMG v40 release, visit this link here.

Additional References

For guidance on the assay workflow, please refer to the library prep documentation: Illumina TruPath Genome Assay Guidance

For additional information on the DRAGEN Germline pipeline, please refer to the DRAGEN documentation: DRAGEN 4.5 User Guide

For data associated with the assay, including sample and coverage recommendations, please review the Illumina TruPath Genome Data Sheet and the Illumina TruPath Genome Tech Note

For the DRAGEN Software Installer for On-Prem customers, visit the link here.

For Illumina TruPath Genome Support, visit this link here.