Katdetectr: an R/bioconductor package utilizing unsupervised changepoint analysis for robust kataegis detection.

ABSTRACT:

Background

Kataegis refers to the occurrence of regional genomic hypermutation in cancer and is a phenomenon that has been observed in a wide range of malignancies. A kataegis locus constitutes a genomic region with a high mutation rate (i.e., a higher frequency of closely interspersed somatic variants than the overall mutational background). It has been shown that kataegis is of biological significance and possibly clinically relevant. Therefore, an accurate and robust workflow for kataegis detection is paramount.

Findings

Here we present Katdetectr, an open-source R/Bioconductor-based package for the robust yet flexible and fast detection of kataegis loci in genomic data. In addition, Katdetectr houses functionalities to characterize and visualize kataegis and provides res

SUBMITTER: Hazelaar DM 

PROVIDER: S-EPMC10580377 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature