TruSight Software Suite

Bringing efficiency and high confidence to case management, variant analysis, and interpretation in rare disease.Read More...
Select Product(s)
What products do I need?

TruSight Software Suite 48 samples


TruSight Software Suite 96 samples


TruSight Software Suite 288 samples


TruSight Software Suite 480 samples


TruSight Software Suite 960 samples


TruSight Software Suite 2,400 samples


TruSight Software Suite 4,800 samples


TruSight Software Suite 9,600 samples



TruSight Software Suite Training at Customer site- 1 day


TruSight Software Suite Training at Illumina Solutions Center 1 day


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 the NovaSeq 6000 System.

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.

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.

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.

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.

View Video
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.

Read Article
TruSight Software Suite

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

Read Data Sheet

Frequently Purchased Together

Case Studies

Informing Analysis and Empowering Interpretation of Variants in Rare Disease

A use case with the TruSight Software Suite.

Read More

Supporting Data and Figures


Product Literature

TruSight Software Suite

Data Sheet | PDF1 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 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 (Dynamic Read Analysis for GENomics) Bio-IT Platform provides accurate, ultra-rapid secondary genomic analysis of 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.