Whole-genome sequencing for rare diseases
Learn more about the advantages and power of whole-genome sequencing to make diagnoses faster and at lower cost.
Harness clinical sequencing with Illumina’s first comprehensive CE-marked IVD solution for whole-genome sequencing.
The TruSight Whole Genome assay includes the TruSight Whole Genome Dx Library Prep and the TruSight Whole Genome Analysis Application.
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.
TruSight Whole Genome Dx Library Prep
The TruSight Whole Genome Dx Library Prep with Unique Dual Indexes enables high-quality libraries in as few as 3 hours, delivering up to 24 libraries.
This instrument offers the flexibility to perform diagnostic testing, translational development, and clinical research on a single platform.
Trusight Whole Genome Analysis App
Analyze data with the speed and precision of clinically validated DRAGEN secondary analysis.
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.
TruSight Whole Genome enables a broad detection of diverse genomic variant classes including:
Learn more about TruSight Whole Genome product specifications, available configurations and accessories, and how to initiate online orders.
Learn more about the advantages and power of whole-genome sequencing to make diagnoses faster and at lower cost.
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.
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.
Download this technical note and learn about the capabilities of the TruSight Whole Genome assay to produce highly reproducible data.
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.
Learn how improvements in informatics are advancing whole-genome sequencing and find out the latest on Illumina Complete Long Reads.
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