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Generating realistic null hypothesis of cancer mutational landscapes using SigProfilerSimulator
[article]
2020
bioRxiv
pre-print
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In cancer genomics, a key challenge is the fast generation of accurate somatic mutational landscapes that can be used as a realistic null hypothesis for making biological discoveries. ...
Here we present SigProfilerSimulator, a powerful tool that is capable of simulating the mutational landscapes of thousands of cancer genomes at different resolutions within seconds. ...
An observation is generally considered statistically significant if it reflects an unlikely outcome of the null hypothesis. ...
doi:10.1101/2020.02.13.948422
fatcat:7uiduf64d5cw7ogcafxw2nnef4
Generating realistic null hypothesis of cancer mutational landscapes using SigProfilerSimulator
2020
BMC Bioinformatics
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2020; you can also visit the original URL.
The file type is application/pdf.
In cancer genomics, a key challenge is the fast generation of accurate somatic mutational landscapes that can be used as a realistic null hypothesis for making biological discoveries. ...
Results Here we present SigProfilerSimulator, a powerful tool that is capable of simulating the mutational landscapes of thousands of cancer genomes at different resolutions within seconds. ...
We constructed a null hypothesis by applying the tool to the 2144 PCAWG cancer genomes. ...
doi:10.1186/s12859-020-03772-3
pmid:33028213
fatcat:6yz3i7ufg5ccrctmvvg7ytgboq
Deficiency in DNA mismatch repair of methylation damage is a major mutational process in cancer
[article]
2020
bioRxiv
pre-print
Preserved Fulltext
A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2021; you can also visit the original URL.
The file type is application/pdf.
Here, using mutation data from cancer genomes, we identify a previously unknown function of MMR, showing that the loss of non-canonical replication-independent MMR activity is a major mutational process ...
The mechanisms underlying these mutational signatures have remained unclear despite studies using a range of in vitro and in vivo models of MMR deficiency. ...
Generating realistic 28 null hypothesis of cancer mutational landscapes using SigProfilerSimulator. (2020). 29 51 Sloan, C. A. et al. ENCODE data at the ENCODE portal. Nucleic Acids Res 44, A. et al. ...
doi:10.1101/2020.11.18.388108
fatcat:z6uuj2djybdhfbimpoonbn5zfa