• News
  • 09/29/2020

Launch of TruSight Software Suite

  • Rita Kamal

We are excited to announce the availability of TruSight™ Software Suite (TSS), our new analysis and interpretation solution for whole genome sequencing in rare genetic disease.

TSS offers ready-made infrastructure to analyze and interpret rare disease variants and accelerate the identification of genetic diseases. Powered by DRAGEN variant-calling, this software enables researchers to evaluate most variant types implicated in rare disease within a single interface. Intuitive variant filtering, visualization and curation enable laboratories to perform streamlined interpretation and generate customizable reports. Additional product details are here>>

Variant Analysis and Interpretation in TruSight Software Suite

TSS simplifies next generation sequencing (NGS) bioinformatics and allows the user to easily prioritize and review genomic variation(s) likely to cause a rare genetic disease. By enabling laboratories and researchers to quickly annotate and navigate the billions of base pairs in a patient’s genetic code, TruSight Software Suite makes it easier to glean valuable medical insights from whole-genome sequencing data.


With its ability to comprehensively assess an entire genome, whole-genome sequencing (WGS) can provide answers in less than 72 hours, rather than years. But the human genome has around 3 billion bases and more than 20,000 genes. One genome can have five million variations. Almost all of those are harmless, but they have to be sifted to find the one disease-causing variation. With its intuitive, high-powered analysis tools, TSS displays critical data aggregation, variant visualization, variant curation, and machine-learning tools to promote efficient and informed interpretation. Comprehensive variant calling includes insertions/ deletions (indels), single nucleotide variants (SNVs), copy number variants (CNVs), structural variants, mitochondrial variants, repeat expansions, runs of homozygosity, and other types of variants commonly implicated in rare disease.

Family-based variant filtering enables identification of inherited and de novo variants

TruSight Software Suite launches as part of the new whole-genome sequencing workflow. TSS and Illumina DNA PCR-Free Prep, coupled with the proven speed and flexibility of the NovaSeq™ 6000, empower laboratories to use a family of products to deliver scalable and efficient whole-genome sequencing results.

One of genomic sequencing’s most powerful applications is helping the fight against rare disease. Many families with a child with an unexplained set of medical issues find themselves on a years-long diagnostic odyssey to find answers. These incredible technologies can help families and make it easier for rare disease patients to benefit from valuable genomic insights.


To schedule a demo of the TruSight Software, please contact your Illumina team.