From cfDNA to Sequencing: Workflows and Potentials

Methods Mol Biol. 2019:1909:119-125. doi: 10.1007/978-1-4939-8973-7_9.

Abstract

Cell-free DNA (cfDNA) is acquiring increasingly importance in oncologic clinical practice, mostly due to its role in predicting the onset of therapy resistance by following the mutation status changes of patients. In this field, high-sensitivity methods like next-generation sequencing (NGS) could help to accurately detect somatic mutations at low frequency. Here, we report some advantages and limitations of NGS approaches for cfDNA mutation analyses with the aim of choosing the most suitable in terms of sensitivity, specificity, data output, costs, and time work.

Keywords: Amplicon-based panel; Cell-free DNA; Hybridization capture-based panel; Next-generation sequencing; Sequencing.

MeSH terms

  • Animals
  • Cell-Free Nucleic Acids / blood
  • Cell-Free Nucleic Acids / genetics*
  • DNA Mutational Analysis / methods
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Neoplasms / blood
  • Neoplasms / genetics
  • Nucleic Acid Hybridization / methods
  • Sequence Analysis, DNA / methods*
  • Workflow

Substances

  • Cell-Free Nucleic Acids