revert

CRANrevertMaRDI QIDQ5979726FDOQ5979726

Reversion Mutation Identifier for Sequencing Data

Hui Xiao, Syed Haider, Stephen Pettitt, Adam Mills

Last update: 23 November 2023

Copyright license: GNU General Public License, version 2.0

Software version identifier: 0.0.1

Description

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.

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