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.
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Ji, S., Montierth, M.D., Wang, W. (2022). MuSE: A Novel Approach to Mutation Calling with Sample-Specific Error Modeling. In: Ng, C., Piscuoglio, S. (eds) Variant Calling. Methods in Molecular Biology, vol 2493. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2293-3_2
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DOI: https://doi.org/10.1007/978-1-0716-2293-3_2
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