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.
| Version: |
0.0.1 |
| Imports: |
IRanges, GenomicRanges, Biostrings, Rsamtools, BSgenome, BSgenome.Hsapiens.UCSC.hg38 |
| Suggests: |
knitr, rmarkdown, futile.logger |
| Published: |
2023-11-23 |
| DOI: |
10.32614/CRAN.package.revert |
| Author: |
Hui Xiao [aut, cre],
Adam Mills [aut],
John Alexander [ctb],
Stephen Pettitt [aut],
Syed Haider [aut] |
| Maintainer: |
Hui Xiao <hui.xiao at icr.ac.uk> |
| License: |
GPL-2 |
| NeedsCompilation: |
no |
| SystemRequirements: |
R >= 4.1.0, SAMtools >= 1.11 |
| Materials: |
NEWS |
| CRAN checks: |
revert results |
Documentation:
Downloads:
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