MutEnricher: a flexible toolset for somatic mutation enrichment analysis of tumor whole genomes.

ABSTRACT:

Background

Analysis of somatic mutations from tumor whole exomes has fueled discovery of novel cancer driver genes. However, ~ 98% of the genome is non-coding and includes regulatory elements whose normal cellular functions can be disrupted by mutation. Whole genome sequencing (WGS), on the other hand, allows for identification of non-coding somatic variation and expanded estimation of background mutation rates, yet fewer computational tools exist for specific interrogation of this space.

Results

We present MutEnricher, a flexible toolset for investigating somatic mutation enrichment in both coding and non-coding genomic regions from WGS data. MutEnricher contains two distinct modules for these purposes that provide customizable options for calculating sample- and feature-sp

SUBMITTER: Soltis AR 

PROVIDER: S-EPMC7393734 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature