Illumina

Optimized whole-genome sequencing (WGS) workflows on NovaSeq™ platforms, enabling highly sensitive standard or duplex sequencing with as little as 2 ng cfDNA—flexible across oncology research applications.

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Powered by NovaSeq X, optimized library prep, and informatics and a Q70 dual-strand technology roadmap, Illumina enables complementary WGS workflows for highly sensitive solid tumor MRD research, with a path to single-digit parts-per-million (ppm) detection.

More than sequencing, MRD research programs require an integrated approach. Illumina delivers a fully connected platform to support performance, scalability, and evidence generation.

test tube
Library Prep
  • Broad compatibility across FFPE tissue, bone marrow aspirate, buffy coat and cfDNA
  • cfDNA inputs as low as 2 ng
  • High conversion efficiency
novaseq x
Sequencing
  • High-throughput, high-quality performance for demanding oncology research applications
  • 2,000+ NovaSeq installations worldwide
computer screen with data report
Informatics
  • DRAGEN-based pipelines optimized on thousands of datasets with extensive noise reduction for the most accurate analysis of fingerprinting and ctDNA signals
handshake
Partnership
  • End to end support for implementation, evidence generation and long-term program development

In low-disease-burden settings, sensitivity is limited not only by sequencing depth, but also by how much tumor-derived DNA is present in a blood sample. Tracking a small number of variants can miss signal when very few tumor-derived fragments are available.

Whole-genome sequencing addresses this challenge by aggregating signal across thousands of tumor-informed variants, helping overcome sampling limitations and enabling ultra-sensitive cancer monitoring research.

diagram of process for WGS tumor-informed approach

  • Broader tumor signal:
    Tracks genome-wide, patient specific variants beyond 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.
lab tech pipetting

For laboratories developing MRD research capabilities, the decision is not only about sensitivity. It is also about implementation, scalability, data ownership, and long-term flexibility.

  • Maintain control of samples, data, and analysis
  • Build evidence with institutional collaborators
  • Scale across applications as MRD research approaches evolve

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 modalities 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.