Rare Variant Analysis and Interpretation

Comprehensive variant analysis and interpretation for rare disease

Ready-made and integrated NGS technology provides efficient rare disease evaluation

Simplified Analysis of Genetic Variants

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.

Learn More About TruSight Software Suite

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Rare Variant Analysis Made Easy

Find critical answers quickly with comprehensive variant calling and prioritization.

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Variant Filtering and Prioritization

Perform family-based variant filtering for identification of inherited and de novo variants.

Comprehensive, Accurate Variant Calling

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:

  • Small variants
  • Copy number variants
  • Structural variants
  • Mitochondrial variants
  • Repeat expansions
  • Runs of homozygosity
  • Paralogs (eg, SMN1/SMN2)

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.

Rare Variant Analysis Software Features

Simplified Variant Annotation and Prioritization

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.

Machine Learning To Enhance Analysis

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.

Learn About Machine-Learning Tools in TruSight Software Suite

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TruSight Software Suite Product Highlights

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.

Integrated Rare Variant Analysis Workflow

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.

Secure Infrastructure for Variant Analysis

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.

Featured Rare Variant Analysis Articles

Scaling from Exome to Whole-Genome Sequencing with DRAGEN

The DRAGEN Bio-IT Platform enables GeneDx to scale to whole-genome analysis and identify variants with precision.

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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.

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Study Assesses Newborns with Suspected Rare Diseases

Can clinical whole-genome sequencing change care?

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Related Methods

Rare Disease Whole-Genome Sequencing

Whole-genome sequencing is the most comprehensive test for rare disease, with the potential for superior diagnostics and outcomes.

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Human Whole-Genome Sequencing

Previously a challenging application, human whole-genome sequencing is one of the simplest. It offers the most detailed view into our genetic code.

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Genetic and Rare Diseases

Our technology is helping to drive breakthroughs in genetic disease testing by facilitating early detection.

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Related Solutions

Illumina DNA PCR-Free Prep

High performance for sensitive applications such as human whole-genome sequencing.

NovaSeq 6000 System

Get scalable throughput and flexibility for virtually any sequencing method, genome, and scale of project.

DRAGEN Bio-IT Platform

Perform accurate, ultra-rapid secondary analysis of sequencing data.

  1. Miller NA, Farrow EG, Gibson M, et al.A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Med. 2015;7:100. doi: 10.1186/s13073-015-0221-8.