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MuSE: accounting for tumor heterogeneity using a sample-specific error model improves sensitivity and specificity in mutation calling from sequencing data

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Fan, Yu, Xi, Liu, Hughes, Daniel S. T., Zhang, Jianjun, Zhang, Jianhua, Futreal, P. Andrew, Wheeler, David A., Wang, Wenyi·2016·Genome Biology

Abstract

Subclonal mutations reveal important features of the genetic architecture of tumors. However, accurate detection of mutations in genetically heterogeneous tumor cell populations using next-generation sequencing remains challenging. We develop MuSE ( http://bioinformatics.mdanderson.org/main/MuSE ), Mutation calling using a Markov Substitution model for Evolution, a novel approach for modeling the evolution of the allelic composition of the tumor and normal tissue at each reference base. MuSE adopts a sample-specific error model that reflects the underlying tumor heterogeneity to greatly improve the overall accuracy. We demonstrate the accuracy of MuSE in calling subclonal mutations in the context of large-scale tumor sequencing projects using whole exome and whole genome sequencing.

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Metadata

Authors
Fan, Y., Xi, L., Hughes, D. S. T., Zhang, J., Zhang, J., Futreal, P. A., Wheeler, D. A., & Wang, W.
Venue
Genome Biology
Published
2016-08-24
Volume
17
Issue
1
Pages
178-178
ISSN
  • 1465-6906 (ISSN-L)
  • 1474-760X
OpenAlex
W2513185582
Cited by
286
References
6
FWCI
7.28
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: MuSE: accounting for tumor heterogeneity using a sample-specific error model improves sensitivity and specificity in mutation calling from sequencing data. https://app.cochat.ai/papers/10.1186/s13059-016-1029-6
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Fan, Y., Xi, L., Hughes, D. S. T., Zhang, J., Zhang, J., Futreal, P. A., Wheeler, D. A., & Wang, W. (2016). MuSE: accounting for tumor heterogeneity using a sample-specific error model improves sensitivity and specificity in mutation calling from sequencing data. Genome Biology. https://doi.org/10.1186/s13059-016-1029-6

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