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Use of an Integrated Pan-Cancer Oncology Enrichment Next-Generation Sequencing Assay to Measure Tumour Mutational Burden and Detect Clinically Actionable Variants.

Valerie PestingerMatthew SmithToju SilloJohn M FindlayJean-Francois LaesGerald MartinGary MiddletonPhillipe TaniereAndrew D Beggs
Published in: Molecular diagnosis & therapy (2021)
The TSO500 assay accurately measures TMB, microsatellite instability, SNVs, indels, copy-number/structural variation and gene fusions when compared to WGS and orthogonal technologies. Coupled with a clinical annotation pipeline, this provides a powerful methodology for identification of clinically actionable variants.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • high throughput
  • papillary thyroid
  • dna methylation
  • palliative care
  • squamous cell
  • risk factors
  • squamous cell carcinoma
  • gene expression
  • rna seq
  • single cell
  • young adults