Highly sensitive whole genome tumor-informed sequencing for MRD research
Highly sensitive whole genome tumor-informed sequencing
for MRD research
Illumina brings MRD research into your lab with one standardized WGS tumor-informed platform. Build a sample specific tumor fingerprint once, then track fingerprint variants in cfDNA over time at 10-40 parts per million (ppm) with Illumina WGS Oncology Prep or at single digit ppm with Illumina Duplex Sequencing Technology. Library prep, NovaSeq sequencing, and DRAGEN™ analysis all come highly optimized from Illumina, so labs can run MRD research on a single, seamless platform.
- One platform, one vendor. Library prep, NovaSeq sequencing, and DRAGEN informatics - developed, deployed and supported together
- Complementary workflows. Illumina WGS Oncology Prep builds the sample specific tumor fingerprint. Serial sample follow up monitoring runs on either Illumina WGS Oncology Prep at 10-40 ppm or Illumina Duplex Sequencing Technology at single-digit ppm
- Versatility without complexity. A standardized, non-bespoke approach eliminates the need for custom panel design and manufacture, simplifying lab operations
- Partnership. Comprehensive support for implementation, research projects, and long-term program development
One flexible WGS backbone, multiple applications
- A flexible genome backbone. A single library prep chemistry supports solid tumor MRD research, blood cancer genomic profiling and other future WGS oncology research applications as your menu expands
- Batch what you want, when you want. Individually addressable lanes on NovaSeq X/X+ and NovaSeq 6000 let you combine FFPE, buffy coat, cfDNA and bone marrow aspirate libraries in a single run. Mixed cohorts and multi-timepoint studies can converge all into one sequencing run
- Highly sensitive. Analytical sensitivity (LoD95) of 10-40 ppm for solid tumor MRD research, from cfDNA inputs as low as 2 ng
- Simple and fast. A streamlined, distributable workflow with <5 day turnaround time
- Runs on the high throughput platform you already own. Compatible with NovaSeq X/X+ and NovaSeq 6000
- See the data behind the performance. View the analytical performance poster
Library Prep
- One kit across FFPE, bone marrow aspirate, buffy coat and cfDNA
- cfDNA inputs as low as 2 ng
- High conversion efficiency
Sequencing
- High-throughput, high-quality performance for demanding oncology research
- Flexible batching via individually addressable lanes
- 2,000+ NovaSeq installations worldwide
Informatics
- DRAGEN pipelines optimized on hundreds of samples
- Extensive noise reduction for accurate fingerprinting and ctDNA analysis
- Cloud or on-premise deployment
The ultra-sensitive extension
Illumina Duplex Sequencing Technology is a new dual-strand WGS chemistry for serial cfDNA monitoring, designed for MRD research where the ctDNA quantity is lowest— such as early-stage disease and low-shedding tumors
- Dual-strand accuracy. Duplex sequencing technology that reduces system error rate leading to ultra-high accuracy variant calling through consensus reads of both strands in cfDNA fragments
- Q65+ base-call quality. A novel Q-score prediction algorithm delivers a step change in sequencing accuracy
- Single-digit ppm sensitivity. Ultra-sensitive ctDNA detection for MRD research at the lowest tumor fractions
- Built on the established platform. Powered by NovaSeq X Series and DRAGEN - the same systems running in labs today, ready for the applications added tomorrow
- See the data behind the performance: View the method and technology feasibility poster
Q65+ accuracy
Single digit ppm sensitivity
5-10 ng cfDNA
Why tumor-informed WGS for MRD research?
- Broader tumor signal:
Tracks thousands of sample-specific variants across the genome, providing a broader tumor signal than targeted panels - Sensitivity at low tumor fractions:
Integrates signal across many mutations to support detection at very low ctDNA levels - Comprehensive variant detection:
WGS approach can support analysis across SNVs, indels, copy number variants, and structural variants in a single sequencing strategy - Future ready flexibility:
Supports expanding MRD research into broader oncology applications as research needs evolve
Bring WGS-based MRD research into your lab
For laboratories building or expanding MRD research capabilities, sensitivity is only part of the decision. Implementation, scalability, data ownership, research flexibility, and access to integrated informatics are also important.
With an in-house WGS approach, laboratories can:
Maintain control of samples, data, and analysis
Establish a data-rich standardized tumor-informed workflow
Adapt workflow to standard or duplex sequencing based on study needs
Collaborate with institutional researchers to generate evidence
Scale across applications as MRD research evolves
As the leading provider of high throughput sequencing technologies with over 2,000 NovaSeq instruments across the globe, Illumina empowers local laboratories to adopt sequencing intensive applications such as WGS MRD research with greater speed and accessibility.
Explore early access opportunities*
Learn more about Illumina workflow for WGS-based MRD research and explore early access opportunities. Submit the form to contact our team and receive updates on program availability.
* Early access availability may be limited and subject to program criteria.