TY - JOUR
T1 - A mutation-level covariate model for mutational signatures
AU - Kahane, Itay
AU - Leiserson, Mark D.M.
AU - Sharan, Roded
N1 - Publisher Copyright:
© 2023 Kahane et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
PY - 2023/6
Y1 - 2023/6
N2 - Mutational processes and their exposures in particular genomes are key to our understanding of how these genomes are shaped. However, current analyses assume that these processes are uniformly active across the genome without accounting for potential covariates such as strand or genomic region that could impact such activities. Here we suggest the first mutation-covariate models that explicitly model the effect of different covariates on the exposures of mutational processes. We apply these models to test the impact of replication strand on these processes and compare them to strand-oblivious models across a range of data sets. Our models capture replication strand specificity, point to signatures affected by it, and score better on held-out data compared to standard models that do not account for mutation-level covariate information.
AB - Mutational processes and their exposures in particular genomes are key to our understanding of how these genomes are shaped. However, current analyses assume that these processes are uniformly active across the genome without accounting for potential covariates such as strand or genomic region that could impact such activities. Here we suggest the first mutation-covariate models that explicitly model the effect of different covariates on the exposures of mutational processes. We apply these models to test the impact of replication strand on these processes and compare them to strand-oblivious models across a range of data sets. Our models capture replication strand specificity, point to signatures affected by it, and score better on held-out data compared to standard models that do not account for mutation-level covariate information.
UR - http://www.scopus.com/inward/record.url?scp=85163913292&partnerID=8YFLogxK
U2 - 10.1371/journal.pcbi.1011195
DO - 10.1371/journal.pcbi.1011195
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C2 - 37276234
AN - SCOPUS:85163913292
SN - 1553-734X
VL - 19
JO - PLoS Computational Biology
JF - PLoS Computational Biology
IS - 6 June
M1 - e1011195
ER -