TruSight Software Suite v.2.0 released

Author:

Rita Kamal

We are excited to announce the availability of TruSight™ Software Suite (TSS) v.2.0, with key updates to Illumina’s analysis and interpretation solution for WGS/WES in rare genetic disease.

TSS is a comprehensive software solution to analyze and interpret rare disease variants, and it now supports exomes (WES) as well as genomes (WGS). This new release also incorporates a seamless integration with sequencers and BaseSpace SequenceHub, as well as an integrated AI-based variant prioritization tool. These updates improve the TSS workflow and reduce interpretation time, enabling users to discover causative variants associated with rare disease.

Learn more about TSS here >>

Exome support: TSS now supports WES as well as WGS analysis, interpretation and reporting. Integrating the new DRAGEN v.3.7, TSS introduces cutting-edge, genome-grade tools for exome analysis. A single analytic platform that addresses exome needs for today, TSS positions customers for growth tomorrow.

Sequencer integration: Many labs struggle to keep pace with integrating new genomics technology, instruments, and methodologies. TruSight Software Suite simplifies the process, integrating seamlessly with the NovaSeq™ 6000, NextSeq™ 2000, or other systems via BaseSpace Sequence Hub for automating WGS and WES analysis.

AI-based variant prioritization: TruSight Software Suite incorporates a genomics artificial intelligence (AI) engine, powered by Emedgene, to rank variants and highlight the most-likely candidates. The engine generates a knowledge-graph showing supporting evidence for the variant prioritization, like disease– gene relationships, generated by the application of natural language processing (NLP) to various data sources (Figure).

*Figure: AI-based variant prioritization with graphical representation of detailed evidence in a knowledge-graph*

TruSight Software Suite is part of the new whole genome sequencing workflow. TSS and Illumina DNA PCR-Free Prep, coupled with the proven speed and flexibility of the NovaSeq 6000, empower laboratories to use a family of products to deliver scalable and efficient whole genome sequencing results.

To schedule a demo of the TruSight Software, please contact your Illumina team.