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Leukemia Stem Cells pp 447–473Cite as

Bioinformatic Methods to Identify Mutational Signatures in Cancer

Part of the Methods in Molecular Biology book series (MIMB,volume 2185)

Abstract

The genome of a cancer contains somatic mutations that reflect the activities of endogenous and exogenous mutational processes, with each mutational process imprinting a characteristic mutational signature. Computational analysis of somatic mutations derived from next-generation sequencing data allows revealing the mutational signatures operative in a set of cancer genomes. In this chapter, we briefly review the concept of mutational signatures and the tools available for deciphering mutational signatures. Further, we provide a quick guide as well as an in-depth protocol for deciphering mutational signatures using the tool SigProfilerExtractor and review the results generated from an example dataset of cancer genomes.

Key words

  • Cancer
  • Mutations
  • Mutational signatures
  • Bioinformatics
  • SigProfilerExtractor

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  • DOI: 10.1007/978-1-0716-0810-4_28
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Authors and Affiliations

  1. Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA

    S. M. Ashiqul Islam & Ludmil B. Alexandrov

  2. Department of Bioengineering and Moores Cancer Center, University of California, San Diego, La Jolla, CA, USA

    S. M. Ashiqul Islam & Ludmil B. Alexandrov

Authors
  1. S. M. Ashiqul Islam
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  2. Ludmil B. Alexandrov
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Corresponding author

Correspondence to Ludmil B. Alexandrov .

Editor information

Editors and Affiliations

  1. Immune System Development and Function Unit, Centro de Biologia Molecular "Severo Ochoa", (CSIC/UAM), Madrid, Spain

    César Cobaleda

  2. IBMCC, Laboratory 13, CSIC/Universidad de Salamanca, Salamanca, Spain

    Isidro Sánchez-García

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Islam, S.M.A., Alexandrov, L.B. (2021). Bioinformatic Methods to Identify Mutational Signatures in Cancer. In: Cobaleda, C., Sánchez-García, I. (eds) Leukemia Stem Cells. Methods in Molecular Biology, vol 2185. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-0810-4_28

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  • DOI: https://doi.org/10.1007/978-1-0716-0810-4_28

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-0809-8

  • Online ISBN: 978-1-0716-0810-4

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