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Tumor Mutational Burden Analysis

A TMB assay utilizing a whole exome sequencing (WES) of tumor specimens for reliable quantification of TMB across various tumor indications

Tumor Mutational Burden (TMB) is a putative biomarker of response to checkpoint inhibitor therapy. Our TMB assay is a component of our comprehensive immuno-oncology assay portfolio and is available for RUO or GCP applications.

Highlights:

  • TMB assay available in two formats: tumor-only specimens or matched tumor and germline control blood specimens.
  • Based on validated WES assay targeting ~60Mb of coding region of the human genome.
  • TMB tumor-only WES method modeled across multiple tumor indications.
  • High quantitative precision (CV% ≤20%) for TMB >2, suitable for TMB analysis across a wide range of cancer indications including those with traditionally low TMB.

 

Q2 Solutions TMB levels trend with published TMB levels across different cancer types
  LGG CHOL KIRC COAD BLCA LUSC SKCM
Q2 Solutions
TMB (WES)1		 1.5
(N=123)		 2.4
(N=38)		 2.4
(N=100)		 4.6
(N=64)		 8.7
(N=39)		 10.1
(N=258)		 13.2
(N=113)
Published TMB2 1.8
(N=220)		 2.5
(N=1456)		 2.7
(N=543)		 4.5
(N=7758)		 7.2
(N=80)		 9
(N=2102)		 14.4
(N=879)

1Median TMB scores generated from TCGA whole exome sequencing reads through our pipeline
2 Median TMB scores per Chalmers et al., Genome Medicine 2017

• Tumor Mutational Burden Analysis

3 https://gdc.cancer.gov/about-data /publications/mc3-2017
LGG=Lower Grade Glioma, CHOL=Cholangiocarcinoma, KIRC=Renal Clear Cell Carcinoma, COAD=Colon Adenocarcinoma, BLCA=Urothelial Carcinoma, LUSC=Lung Squamous Cell Carcinoma,
SKCM=Cutaneous Melanoma, BRCA=Breast Invasive Carcinoma, HNSC=Head-Neck Squamous Cell Carcinoma, LUAD=Lung Adenocarcinoma, SKCM=Cutaneous Melanoma; STAD=Stomach Adenocarcinoma

TMB assay specifications
Sample Types Tumor tissue (FFPE, fresh frozen or DNA specimens) Normal tissue, optional (PBMC, whole blood or DNA
DNA Requirements 250 ng DNA
Assay Method Whole Exome Sequencing
System Compatibility NovaSeq 6000, HiSeq 2500
Assay Performance >99.9% accuracy of variant calling for variants above 10% allelic frequency Quantitative precision ≤20% CV% across TMB range of 2-32
Deliverables TMB score, FASTQ, BAM, annotated VCF files

Immuno Assay Portfolio

Our TMB assay is a component of our comprehensive immuno-oncology assay portfolio

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