Generating realistic null hypothesis of cancer mutational landscapes using SigProfilerSimulator.

ABSTRACT:

Background

Performing a statistical test requires a null hypothesis. 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. Applying SigProfilerSimulator to 2144 whole-genome sequenced cancers reveals: (i) that most doublet base substitutions are not due to two adjacent single base substitutions but likely occur as single genomic events; (ii) that an extended sequencing context of ± 2 bp is required to more completely capture the patterns of substitution mutatio

SUBMITTER: Bergstrom EN 

PROVIDER: S-EPMC7539472 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature