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

Ji, S., Montierth, M. D., & Wang, W., “MuSE: A Novel Approach to Mutation Calling with Sample-Specific Error Modeling.” In C. Ng & S. Piscuoglio (Eds.), Variant Calling: Methods and Protocols (pp. 21–27). Springer US. 2022 doi: 10.1007/978-1-0716-2293-3_2 PMID: 35751806

Published

June 2022

Doi

10.1007/978-1-0716-2293-3_2

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.

Citation

@incollection{ji2022muse,
  title={MuSE: A novel approach to mutation calling with sample-specific error modeling},
  author={Ji, Shuangxi and Montierth, Matthew D and Wang, Wenyi},
  booktitle={Variant Calling: Methods and Protocols},
  pages={21--27},
  year={2022},
  publisher={Springer}
}