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.
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.
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.
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.
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 SheetBegin the end of the diagnostic journey
Brochure | PDF6 MB
Variant filtering in TruSight Software Suite
Technical Note | PDF< 1 MB
Personal data security in TruSight Software Suite
Application Note | PDF< 1 MB
Data Sheet | PDF | 6 versions
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