revert: Reversion Mutation Identifier for Sequencing Data

A tool for detecting reversions for a given pathogenic mutation from next-generation DNA sequencing data. It analyses reads aligned to the locus of the pathogenic mutation and reports reversion events where secondary mutations have restored or undone the deleterious effect of the original pathogenic mutation, e.g., secondary indels complement to a frameshift pathogenic mutation converting the orignal frameshift mutation into inframe mutaions, deletions or SNVs that replaced the original pathogenic mutation restoring the open reading frame, SNVs changing the stop codon caused by the original nonsense SNV into an amino acid, etc.

Getting started

Package details

AuthorHui Xiao [aut, cre], Adam Mills [aut], John Alexander [ctb], Stephen Pettitt [aut], Syed Haider [aut]
MaintainerHui Xiao <hui.xiao@icr.ac.uk>
LicenseGPL-2
Version0.0.1
Package repositoryView on CRAN
Installation Install the latest version of this package by entering the following in R:
install.packages("revert")

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revert documentation built on Nov. 23, 2023, 5:07 p.m.