Kataegis: an R package for identification and visualization of the genomic localized hypermutation regions using high-throughput sequencing.

ABSTRACT:

Background

Genomic localized hypermutation regions were found in cancers, which were reported to be related to the prognosis of cancers. This genomic localized hypermutation is quite different from the usual somatic mutations in the frequency of occurrence and genomic density. It is like a mutations "violent storm", which is just what the Greek word "kataegis" means.

Results

There are needs for a light-weighted and simple-to-use toolkit to identify and visualize the localized hypermutation regions in genome. Thus we developed the R package "kataegis" to meet these needs. The package used only three steps to identify the genomic hypermutation regions, i.e., i) read in the variation files in standard formats; ii) calculate the inter-mutational distances; iii) identify the hype

SUBMITTER: Lin X 

PROVIDER: S-EPMC8196519 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature