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. 2024 May 23;25(4):bbae249. doi: 10.1093/bib/bbae249

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© The Author(s) 2024. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Inferring the minimum number of mutations required to perform mutational signatures analysis. (A) Sampling experiment on the CRC cell line dataset showing that at least 323 mutations are required to reach the threshold of cosine similarity for proper analysis. (B) Sampling experiment on the clinical dataset showing that at least 64 variants are required to reach the threshold of cosine similarity for performing the analysis. (C) Sampling experiment in the CRC cell line dataset using a metanormal as matched normal, showing that 145 mutations are needed for reaching the threshold (as compared to 323 in the absence of the metanormal). (D) Decrease in the contribution of mutational signatures associated with artefacts in the CRC cell line dataset using a metanormal. CRC, Colorectal Cancer; hg38, human genome version 38.