Training at Customer site
20042020
Training at Illumina Solutions Center
20042021
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.
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.
Manage cases from sample acquisition to report, assign cases to users, configure pipeline settings, and set quality control thresholds.
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.
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 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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Comprehensive variant calling and interpretation with TruSight Software Suite can help you find critical answers quickly.
View VideoThe Medical Genome Initiative consortium aims to expand access to high-quality clinical whole-genome sequencing for rare genetic diseases.
Read ArticleLearn how TruSight Software Suite offers an intuitive and comprehensive rare disease analysis and interpretation solution.
Read Data SheetA use case with the TruSight Software Suite.
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Variant analysis in TruSight Software Suite begins with automatic alignment and variant calling using the DRAGEN Platform, followed by triaging, visualizing, and interpreting variants.
Family-based variant filtering enables identification of inherited and de novo variants. The variant grid, which is customizable by each user, shows information on category of variant, chromosomal position, gene affected, overlap (number of overlapped phenotypes for the variant), consequence of the variant, population frequency of the variant (if known), and more.
The CaseLog feature in TruSight Software Suite enables visualization of aggregate data for both variants and genes of interest.
TruSight Software Suite offers a template for customization of reports of gene and variant associations relevant to the case.
Begin the end of the diagnostic journey
Brochure | PDF 6 MB
Data Sheet | PDF 1 MB
Machine-learning tools in TruSight Software Suite
Application Note | PDF 1 MB
Personal data security in TruSight Software Suite
Application Note | PDF < 1 MB
Variant filtering in TruSight Software Suite
Technical Note | PDF < 1 MB
Variant curation in TruSight Software Suite
Technical Note | PDF 3 MB
Data Sheet | PDF | 6 versions
Custom Protocol Selector
Generates customized, end-to-end instructions
A high-performing, fast, and integrated workflow for sensitive applications such as human whole-genome sequencing.
Reagent kits for the NovaSeq 6000 System provide ready-to-use cartridge-based reagents for cluster generation and SBS.
Illumina DRAGEN (Dynamic Read Analysis for GENomics) Bio-IT Platform provides accurate, comprehensive, and efficient analysis of next generation sequencing data.
