Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq

Nat Commun. 2017 May 22:8:15335. doi: 10.1038/ncomms15335.

Abstract

Detection of de novo, low-frequency mutations is essential for characterizing cancer genomes and heterogeneous cell populations. However, the screening capacity of current ultrasensitive NGS methods is inadequate owing to either low-efficiency read utilization or severe amplification bias. Here, we present o2n-seq, an ultrasensitive and high-efficiency NGS library preparation method for discovering de novo, low-frequency mutations. O2n-seq reduces the error rate of NGS to 10-5-10-8. The efficiency of its data usage is about 10-30 times higher than that of barcode-based strategies. For detecting mutations with allele frequency (AF) 1% in 4.6 Mb-sized genome, the sensitivity and specificity of o2n-seq reach to 99% and 98.64%, respectively. For mutations with AF around 0.07% in phix174, o2n-seq detects all the mutations with 100% specificity. Moreover, we successfully apply o2n-seq to screen de novo, low-frequency mutations in human tumours. O2n-seq will aid to characterize the landscape of somatic mutations in research and clinical settings.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Fragmentation
  • DNA Mutational Analysis / methods*
  • DNA, Neoplasm / genetics
  • Gene Frequency
  • Gene Library
  • Genome, Human
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Mutation
  • Neoplasms / genetics*
  • Polymerase Chain Reaction
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • DNA, Neoplasm