TruSight Whole Genome

Harness clinical sequencing with Illumina’s first comprehensive CE-marked IVD solution for whole-genome sequencing.

NovaSeq 6000Dx Flow Cells

Unique care demands unique analyses

The TruSight Whole Genome assay includes the TruSight Whole Genome Dx Library Prep and the TruSight Whole Genome Analysis Application.


TruSight Whole Genome workflow

A simple, flexible, and powerful WGS IVDR-compliant workflow for your clinical lab

TruSight Whole Genome is a ground-breaking, CE-marked DNA-to-Variant Call Format (VCF) whole-genome workflow that delivers cutting-edge analysis for genomic insights.

Library Prep
Data Analysis

Analyze data with the speed and precision of clinically validated DRAGEN secondary analysis. 

NovaSeq 6000Dx user interface

Build for a future with genome-level insights

Use whole-genome sequencing to optimize efforts for patient diagnoses, with comprehensive analysis of exons, introns, and diverse classes of variants. Leverage uniform coverage along with the benefit of future reanalysis using a CE-marked IVD solution.

Confidently incorporate cutting-edge analyses

With reproducible results and a workflow that has undergone robust clinical validation, take comfort in knowing the performance of the assay will meet the demands and rigors of an advanced molecular lab.

Enable flexibility to address specific needs

Enjoy flexibility with multiple flowcell options to accommodate different sample volume needs. Leverage the NovaSeq 6000Dx to run additional research assays in RUO mode or IVD assays in IVD mode.

Comprehensive variant detection

TruSight Whole Genome enables a broad detection of diverse genomic variant classes including:

  • Copy number variants (CNVs)
  • Single nucleotide variants (SNVs)
  • Runs of homozygosity (ROH)​
  • Insertions and deletions (Indels)​
  • Short tandem repeat (STR)​ expansions
  • Mitochondrial SNVs (mitoSNVs)
NovaSeq 6000Dx in a lab

Related content

WGS in critically ill neonates

Professor Hagit Baris Feldman, Director of the Genetics Institute and the Genomic Center at Tel Aviv Sourasky Medical Center, discusses the Israeli National Clinical Baby Bambi pilot using rtWGs in neonates in this lecture.

WGS in a routine clinical setting in Sweden

Professor Anna Lindstrand, Director of the Clinical Genetics Diagnostic Laboratory at Karolinska University Hospital and group leader for rare disease research, talks about WGS as a frontline test in routine clinical settings.

Improving care for infants with WGS

Watch this webinar to learn more about how WGS can benefit critically ill infants. Learn about the NICUSeq study results and key findings along with considerations for implementing diagnostic whole-genome sequencing to serve an acute care setting.

Get in touch

Reach out for information about Illumina genomic products and services.