The use of technical replication for detection of low-level somatic mutations in next-generation sequencing

Nat Commun. 2019 Mar 5;10(1):1047. doi: 10.1038/s41467-019-09026-y.

Abstract

Accurate genome-wide detection of somatic mutations with low variant allele frequency (VAF, <1%) has proven difficult, for which generalized, scalable methods are lacking. Herein, we describe a new computational method, called RePlow, that we developed to detect low-VAF somatic mutations based on simple, library-level replicates for next-generation sequencing on any platform. Through joint analysis of replicates, RePlow is able to remove prevailing background errors in next-generation sequencing analysis, facilitating remarkable improvement in the detection accuracy for low-VAF somatic mutations (up to ~99% reduction in false positives). The method is validated in independent cancer panel and brain tissue sequencing data. Our study suggests a new paradigm with which to exploit an overwhelming abundance of sequencing data for accurate variant detection.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Algorithms
  • Brain / pathology
  • Computational Biology / methods*
  • DNA Mutational Analysis / methods*
  • Gene Frequency / genetics
  • Genome, Human / genetics
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Models, Statistical*
  • Neoplasms / genetics
  • Neoplasms / pathology
  • Polymorphism, Single Nucleotide / genetics
  • Whole Genome Sequencing / methods*