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Updated: Feb 13, 2026

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Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele

Davina Gale1, Andrew R J Lawson1, Karen Howarth1

  • 1Inivata Ltd, Granta Park, Cambridge, United Kingdom.

Plos One
|March 17, 2018
PubMed
Abstract

Insights

The enhanced TAm-Seq (eTAm-Seq) technology reliably detects low-frequency mutations in circulating tumor DNA (ctDNA) for precision medicine. This amplicon-based sequencing method demonstrates high accuracy and reproducibility across multiple laboratories for cancer gene analysis.

Area of Science:

  • Molecular Biology
  • Genomics
  • Oncology

Background:

  • Circulating tumor DNA (ctDNA) is crucial for cancer diagnostics, prognostics, and predicting treatment response.
  • Identifying multiple actionable gene targets in ctDNA requires advanced, parallel analysis technologies.

Purpose of the Study:

  • To analytically validate the InVision™ platform utilizing enhanced TAm-Seq (eTAm-Seq) technology.
  • To assess the reproducibility and quantitative performance of eTAm-Seq for somatic mutation detection in ctDNA.

Main Methods:

  • Utilized eTAm-Seq, an amplicon-based next-generation sequencing method, to analyze a 35-gene panel.
  • Conducted cross-laboratory validation and compared quantitative performance against digital PCR (dPCR) using DNA standards and controls.

Main Results:

  • The assay detected mutant alleles down to 0.02% allele fraction (AF) with 99.9997% per-base specificity.
  • Achieved 94% mutation detection at 0.25%-0.33% AF with optimal DNA input and 90% with lower input across two labs.

Conclusions:

  • eTAm-Seq technology is robust and reproducible for identifying and quantifying somatic mutations in ctDNA.
  • The validated technology supports clinical applications in precision oncology.

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