MuSE: A Novel Approach to Mutation Calling with Sample-Specific Error Modeling

Shuangxi Ji, Matthew D. Montierth, Wenyi Wang

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Abstract

Accurate detection of somatic mutations in genetically heterogeneous tumor cell populations using next-generation sequencing remains challenging. We have developed MuSE, Mutation calling using a Markov Substitution model for Evolution, a novel approach for modeling the evolution of the allelic composition of tumor and normal tissue at each reference base. It adopts a sample-specific error model to depict inter-tumor heterogeneity, which greatly improves the overall accuracy. Here, we describe the method and provide a tutorial on the installation and application of MuSE.

Original languageEnglish (US)
Title of host publicationMethods in Molecular Biology
PublisherHumana Press Inc.
Pages21-27
Number of pages7
DOIs
StatePublished - 2022

Publication series

NameMethods in Molecular Biology
Volume2493
ISSN (Print)1064-3745
ISSN (Electronic)1940-6029

Keywords

  • Bayesian model
  • Cancer evolution
  • Next-generation DNA sequencing
  • Single-nucleotide variants
  • Tumor heterogeneity

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

MD Anderson CCSG core facilities

  • Bioinformatics Shared Resource

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