Isma: an R package for the integrative analysis of mutations detected by multiple pipelines.

ABSTRACT:

Background

Recent comparative studies have brought to our attention how somatic mutation detection from next-generation sequencing data is still an open issue in bioinformatics, because different pipelines result in a low consensus. In this context, it is suggested to integrate results from multiple calling tools, but this operation is not trivial and the burden of merging, comparing, filtering and explaining the results demands appropriate software.

Results

We developed isma (integrative somatic mutation analysis), an R package for the integrative analysis of somatic mutations detected by multiple pipelines for matched tumor-normal samples. The package provides a series of functions to quantify the consensus, estimate the variability, underline outliers, integrate evidences

SUBMITTER: Di Nanni N 

PROVIDER: S-EPMC6394085 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature