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: Linking:Please use the canonical form https://CRAN.R-project.org/package=revert to link to this page.
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