PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations

PLoS One. 2019 Sep 13;14(9):e0222562. doi: 10.1371/journal.pone.0222562. eCollection 2019.

Abstract

In this study, we describe the development of a PCR-free whole exome sequencing method. Using this method, 2 μg DNA was sufficient for library preparation for whole exome sequencing. Furthermore, the method is simple and makes use of a commercial kit, with additional step of concentrating the captured library by ethanol precipitation. The accuracy of the PCR-free method was found to be equivalent to that of unique molecular identifier-corrected analysis method, which is the commonly used method to detect rare mutations. Thus, the PCR-free whole exome sequencing method is cost-effective as well as efficient in detecting rare mutations.

MeSH terms

  • Cost-Benefit Analysis
  • DNA / genetics
  • Exome / genetics
  • Exome Sequencing / methods*
  • Gene Library
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Mutation / genetics*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single Nucleotide / genetics
  • Sequence Analysis, DNA / methods*

Substances

  • DNA

Grants and funding

The authors received no specific funding for this work.