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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