Nature Communications (Jul 2019)

A practical guide for mutational signature analysis in hematological malignancies

  • Francesco Maura,
  • Andrea Degasperi,
  • Ferran Nadeu,
  • Daniel Leongamornlert,
  • Helen Davies,
  • Luiza Moore,
  • Romina Royo,
  • Bachisio Ziccheddu,
  • Xose S. Puente,
  • Herve Avet-Loiseau,
  • Peter J. Campbell,
  • Serena Nik-Zainal,
  • Elias Campo,
  • Nikhil Munshi,
  • Niccolò Bolli

DOI
https://doi.org/10.1038/s41467-019-11037-8
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 12

Abstract

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Mutational signature analysis provides important information about the mutational processes underpinning different stages of tumorigenesis. Here, the authors compare publicly available signature extraction tools and suggest a framework for the generation of accurate and reproducible signature data.