The mutREAD method detects mutational signatures from low quantities of cancer DNA

Nat Commun. 2020 Jun 23;11(1):3166. doi: 10.1038/s41467-020-16974-3.

Abstract

Mutational processes acting on cancer genomes can be traced by investigating mutational signatures. Because high sequencing costs limit current studies to small numbers of good-quality samples, we propose a robust, cost- and time-effective method, called mutREAD, to detect mutational signatures from small quantities of DNA, including degraded samples. We show that mutREAD recapitulates mutational signatures identified by whole genome sequencing, and will ultimately allow the study of mutational signatures in larger cohorts and, by compatibility with formalin-fixed paraffin-embedded samples, in clinical settings.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology
  • DNA Mutational Analysis / methods*
  • DNA Primers
  • DNA, Neoplasm / isolation & purification*
  • Genes, Neoplasm / genetics
  • Genetic Testing / methods*
  • Genome, Human
  • Humans
  • Mutation*
  • Neoplasms / genetics*
  • Sequence Analysis, DNA / methods
  • Whole Genome Sequencing

Substances

  • DNA Primers
  • DNA, Neoplasm