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.
View VideoComprehensive 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.
Read MoreBegin 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
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