Ready-made and integrated NGS technology provides efficient rare disease evaluation
Current tools for rare variant analysis are fragmented, often involving several different pipelines that all require separate integration efforts and maintenance schedules. This disjointed framework prevents laboratories from scaling services effectively. Today, high-throughput labs need intuitive tools for variant calling, interpretation, and reporting in a comprehensive and seamless way.
The TruSight Software Suite consolidates all these tools at your fingertips. Simplify rare variant analysis and interpretation by calling, prioritizing, and reporting on variants from one software interface. The suite is designed for high-throughput labs using whole-genome and whole-exome sequencing to evaluate and report on variants associated with rare genetic disease.
The TruSight Software Suite provides rapid turnaround for rare variant analysis with automated processing and joint variant calling. Powered by the speed and precision of the DRAGEN Platform,1 the suite performs comprehensive identification for key variant types, including:
By analyzing and visualizing multiple types at one time, you can easily view compound heterozygosity across variant categories.*
*TruSight Software Suite is compatible with both whole-genome sequencing and whole-exome sequencing samples. DRAGEN supports repeat expansion calling and SMN1/2 calling with whole-genome samples using PCR-Free methods.
Developed with input from leaders in genome interpretation of rare disease, the TruSight Software Suite annotates variants and genes from multiple public databases, such as ClinVar, OMIM, and gnomAD. Additional options to upload custom annotations and query aggregated cases with CaseLog help you leverage institutional knowledge and learn from previous findings. Multiple visualization options allow for quality control of different variants discovered.
TruSight Software Suite is equipped with multiple machine learning tools to decrease time, add context, and corroborate findings. Tools such as automated variant prioritization, automated literature search, and splice site characterization can augment your review of rare variants. With intuitive interpretation and reporting options, you can filter variants via gene lists, inheritance modes, custom annotations, complex logic, and more.
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.
Save time and avoid the fragmented, multi-tool workflows common in rare variant analysis. The TruSight Software Suite supports seamless integration into an Illumina sequencing workflow, from accession to final reports. Jumpstart an automated analysis and interpretation pipeline and manage a single proband or up to five relatives within a single interface.
Centralizing multiple interpretation tools allows for consistent, robust compliance. TruSight Software Suite is ISO-27001 and ISO-13485 certified and complies with HIPAA (third party audited) and the principles of the GDPR. We also offer options to integrate with your lab’s single sign-on policy and other security settings.
The DRAGEN Bio-IT Platform enables GeneDx to scale to whole-genome analysis and identify variants with precision.Read Article
The Medical Genome Initiative consortium aims to expand access to high-quality clinical whole-genome sequencing for rare genetic diseases.Read Article
Can clinical whole-genome sequencing change care?Read Article
Whole-genome sequencing is the most comprehensive test for rare disease, with the potential for superior diagnostics and outcomes.Learn More
Previously a challenging application, human whole-genome sequencing is one of the simplest. It offers the most detailed view into our genetic code.Learn More
Our technology is helping to drive breakthroughs in genetic disease testing by facilitating early detection.Learn More
High performance for sensitive applications such as human whole-genome sequencing.
Get scalable throughput and flexibility for virtually any sequencing method, genome, and scale of project.
Perform accurate, ultra-rapid secondary analysis of sequencing data.