Mutational signatures
Description
Computational decomposition of the catalog of SNVs taken from large datasets of cancer patients revealed that distinct types of mutation patterns arise from distinct mutational processes (such as smoking or UV light). These patterns, called the single base substitution (SBS) mutational signatures, are essentially the frequency distributions of 6 classes of nucleotide substitutions.
Acknowledgements
References
1. Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., ... & Stratton, M. R. (2020). The repertoire of mutational signatures in human cancer. Nature, 578(7793), 94-101.
2. Koh, G., Degasperi, A., Zou, X., Momen, S., & Nik-Zainal, S. (2021). Mutational signatures: emerging concepts, caveats and clinical applications. Nature reviews cancer, 21(10), 619-637.
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