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Illumina Connected Insights‒Oncology Genome Equivalent Sample-VCF
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Illumina improved the analysis of circulating tumors with TruSight Oncology ctDNA 500 v2. Learn about new features and benefits in the video.
Maximize chances of identifying an actionable alteration with the TruSight Oncology 500 product line.
Analyze circulating tumor DNA (ctDNA) in blood plasma with similar DNA panel content as TruSight Oncology 500.
Assess relevant DNA and RNA cancer biomarkers from FFPE tumor tissue, now including HRD through an accessory kit to assess the Genomic Instability Score (GIS)†
Batch up to 192 samples at a time while using the same panel content and tissue input type as TruSight Oncology 500.
†HRD is only available with the addition of the TruSight Oncology 500 HRD kit to the TruSight Oncology 500 kit. Not available in Japan.
|Instrument||Recommended Number of Samples||Read Length|
|NovaSeq 6000 System||24 samples per run (S4 flow cell), 800M paired-end reads, 35,000x coverage||2 × 150 bp|
|NovaSeq 6000 System||8 samples per run (S2 flow cell), 800M paired-end reads, 35,000x coverage||2 × 150 bp|
|TruSight Oncology 500 ctDNA v2||TruSight Oncology 500||TruSight Oncology 500 High-Throughput|
|Cancer Type||Pan-Cancer, Solid Tumor||Pan-Cancer||Pan-Cancer|
|Method||Target Enrichment, Target Enrichment, Targeted DNA Sequencing||Target Enrichment, Target Enrichment, Targeted DNA Sequencing, Targeted RNA Sequencing||Target Enrichment, Target Enrichment, Targeted DNA Sequencing, Targeted RNA Sequencing|
|Nucleic Acid Type||DNA||RNA, DNA||RNA, DNA|
|Specialized Sample Types||Blood, Circulating Tumor DNA||FFPE Tissue||FFPE Tissue|
|System Compatibility||NovaSeq 6000||NextSeq 500, NextSeq 550, NextSeq 550Dx in Research Mode||NovaSeq 6000, NovaSeq 6000Dx in Research Mode|
|Variant Class||Copy Number Variants (CNVs), Insertions-Deletions (indels), Single Nucleotide Variants (SNVs)||Copy Number Variants (CNVs), Gene Fusions, Insertions-Deletions (indels), Single Nucleotide Variants (SNVs), Transcript Variants||Copy Number Variants (CNVs), Gene Fusions, Insertions-Deletions (indels), Single Nucleotide Variants (SNVs), Transcript Variants|
* Based on Pierian clinical knowledgebase, as of February 2023.
* NovaSeq 6000Dx System in RUO Mode requires a separate, stand-alone DRAGEN server for secondary analysis.
* NovaSeq X and NovaSeq 6000 Dx compatibility coming in 2024
*Novaseq X and NovaSeq 6000Dx (in RUO mode) compatibility to come in 2024.
†Not available in all countries. Illumina Connected Insights supports user-defined tertiary analysis through API calls to third-party knowledge sources.
The TruSight Oncology 500 ctDNA v2 is an ultra-sensitive, streamlined liquid biopsy assay for solid tumors that enables CGP from blood plasma samples in <4 days, while TruSight Oncology 500 and TruSight Oncology 500 High-Throughput enable CGP from tissue samples. See other differences in the TruSight Oncology assay comparison table.
The TruSight Oncology 500 ctDNA v2 analysis workflow uses an off-instrument software run on the DRAGEN v4 or v3 server or Illumina Connected Analytics platform to generate sample outputs, including high-level sample metrics, variants detected, and TMB and MSI scores. Tertiary analysis is enabled with either Illumina Connected Insights or the Velsera CGW.
A BaseSpace Sequence Hub evaluation app is also available for assessment use only. Illumina has no obligation to provide technical support for this app. Access is limited to 30 days.
Learn more about compatible analysis software products.
Analysis on the DRAGEN server takes approximately 20-24 hours for S4 runs with 24 libraries and approximately 9–12 hours for S2 runs with 8 libraries.
Yes, you can perform analysis with your own software. However, Illumina will not be able to directly provide technical support in this case.
Approximately 20 ng input cfDNA is recommended to achieve ~0.2% VAF detection for SNVs at >90% sensitivity and >95% specificity; however, the assay can accept a range of input from 10-30 ng cfDNA.
Learn about this joint effort to accelerate the development of personalized treatments based on genomic information.Learn more
Synthetic control samples with known VAF for each single nucleotide variant were diluted to values ranging from 0.20%–0.50% VAF and analyzed by TruSight Oncology 500 ctDNA v2
Synthetic control samples with known VAF for each insertion or deletion were diluted to values ranging from 0.20%–0.50% VAF and analyzed by TruSight Oncology 500 ctDNA v2.
Tumor-only workflow of TSO 500 ctDNA v2 utilizing advanced bioinformatics for germline and CH variant filtering produces highly concordant bTMB compared to a tumor-normal workflow.
MSI was evaluated in 3 cell lines with known MSI-high status (samples 1–3) and detected down to 0.3% tumor fraction assessing up to ~2300 homopolymer sites.
*Lower relative MYC detection due to limit of detection approached faster due to fewer starting copies
*VAF calculated by dividing total number of supporting reads by the higher depth of the two sides of the breakpoint, Illumina data on file 2023