High-throughput sequencing in mutation detection: A new generation of genotoxicity tests?

Alexander Y. Maslov, Wilber Quispe-Tintaya, Tatyana Gorbacheva, Ryan R. White, Jan Vijg

Research output: Contribution to journalReview articlepeer-review

30 Scopus citations


The advent of next generation sequencing (NGS) technology has provided the means to directly analyze the genetic material in primary cells or tissues of any species in a high throughput manner for mutagenic effects of potential genotoxic agents. In principle, direct, genome-wide sequencing of human primary cells and/or tissue biopsies would open up opportunities to identify individuals possibly exposed to mutagenic agents, thereby replacing current risk assessment procedures based on surrogate markers and extrapolations from animal studies. NGS-based tests can also precisely characterize the mutation spectra induced by genotoxic agents, improving our knowledge of their mechanism of action. Thus far, NGS has not been widely employed in genetic toxicology due to the difficulties in measuring low-abundant somatic mutations. Here, we review different strategies to employ NGS for the detection of somatic mutations in a cost-effective manner and discuss the potential applicability of these methods in testing the mutagenicity of genotoxic agents.

Original languageEnglish (US)
Pages (from-to)136-143
Number of pages8
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
StatePublished - Jun 1 2015


  • Genetic toxicology
  • Genome rearrangement
  • Mutagenicity
  • Mutation
  • Next generation sequencing

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis


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