TruSight Software Suite

Bringing efficiency and high confidence to case management, variant analysis, and interpretation in rare disease. Read More...
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TruSight Software Suite 48 WGS / 96 WES samples


TruSight Software Suite 96 WGS / 192 WES samples


TruSight Software Suite 288 WGS / 576 WES samples


TruSight Software Suite 480 WGS / 960 WES samples


TruSight Software Suite 960 WGS / 1,920 WES samples


TruSight Software Suite 2,400 WGS / 4,800 WES samples


TruSight Software Suite 4,800 WGS / 9,600 WES samples


TruSight Software Suite 9,600 WGS / 19,200 WES samples



Training at Customer site


Training at Illumina Solutions Center


Product Highlights

TruSight Software Suite is designed for translating sequencing data into meaningful, interpretable results in rare disease cases. This software as a service (SaaS) analytics solution integrates with BaseSpace Sequence Hub and is compatible with systems used for rare disease analysis, like NovaSeq 6000 or NextSeq 2000.

Comprehensive, Ultra-rapid Variant Calling

TruSight Software Suite is integrated with the DRAGEN Bio-IT Platform, enabling comprehensive, streamlined variant analysis. Use DRAGEN secondary analysis to call small variants, structural variants, mitochondrial variants, repeat expansions, runs of homozygosity, and SMN1/SMN2 variants. Note that DRAGEN only supports repeat expansion calling and SMN1/2 calling with whole-genome samples and PCR-Free methods.

Simplified, Customizable Case Management

Manage cases from sample acquisition to report, assign cases to users, configure pipeline settings, and set quality control thresholds.

Intuitive, High-powered Interpretation

Use TruSight Software Suite to filter variants via gene lists, inheritance modes, custom annotations, and complex logic. You can also flag, sort, and report variants using custom templates. Machine learning tools can provide automated variant characterization and prioritization to lessen the burden of manual analysis.

Secure, Compliant Environment

TruSight Software Suite has been independently audited and certified for HIPAA compliance, ISO 27001, and ISO 13485. It is built to enable data privacy and compliance with the principles of the GDPR.

TruSight Software Suite Product Highlights

TruSight Software Suite is an intuitive and comprehensive case management, visualization, variant filtering, evidence retrieval, and reporting tool, all wrapped into one. Watch the video to learn how TruSight brings efficiency and confidence to case management, variant analysis, and interpretation in rare disease.

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ISO 27001 CERTIFIED by schellman
GDPR Ready
Rare Variant Analysis Made Easy

Comprehensive variant calling and interpretation with TruSight Software Suite can help you find critical answers quickly.

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Driving Standards and Best Practices in Clinical Sequencing

The Medical Genome Initiative consortium aims to expand access to high-quality clinical whole-genome sequencing for rare genetic diseases.

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TruSight Software Suite

Learn how TruSight Software Suite offers an intuitive and comprehensive rare disease analysis and interpretation solution.

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Frequently Purchased Together

Case Studies

Informing Analysis and Empowering Interpretation of Variants in Rare Disease

A use case with the TruSight Software Suite.

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Supporting Data and Figures


Product Literature

TruSight Software Suite

Data Sheet | PDF 1 MB

Variant filtering in TruSight Software Suite

Technical Note | PDF < 1 MB

Manuals and Support Information

Custom Protocol Selector
Generates customized, end-to-end instructions

All TruSight Software Suite  Support  

Related Products

Illumina DNA PCR-Free Prep

A high-performing, fast, and integrated workflow for sensitive applications such as human whole-genome sequencing.

NovaSeq 6000 Reagent Kits

Reagent kits for the NovaSeq 6000 system provide ready-to-use cartridge-based reagents for cluster generation and SBS.

Illumina DRAGEN Bio-IT Platform

The Illumina DRAGEN Bio-IT Platform provides accurate, comprehensive, and efficient analysis of next-generation sequencing data.

  1. Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected diseases. NPJ Genom Med. 2018;3:16.
  2. Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, et al. Predicting splicing from primary sequence with deep learning. Cell. 2019;176(3):535–548.
  3. Sundaram L, Gao H, Padigepati SR, et al. Predicting the clinical impact of human mutation with deep neural networks. Nat Genet. 2018;50(8):1161– 1170.