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bioc
svaNUMT:NUMT detection from structural variant calls
svaNUMT contains functions for detecting NUMT events from structural variant calls. It takes structural variant calls in GRanges of breakend notation and identifies NUMTs by nuclear-mitochondrial breakend junctions. The main function reports candidate NUMTs if there is a pair of valid insertion sites found on the nuclear genome within a certain distance threshold. The candidate NUMTs are reported by events.
Maintained by Ruining Dong. Last updated 5 months ago.
dataimportsequencingannotationgeneticsvariantannotation
3 stars 5.35 score 6 scriptsbioc
svaRetro:Retrotransposed transcript detection from structural variants
svaRetro contains functions for detecting retrotransposed transcripts (RTs) from structural variant calls. It takes structural variant calls in GRanges of breakend notation and identifies RTs by exon-exon junctions and insertion sites. The candidate RTs are reported by events and annotated with information of the inserted transcripts.
Maintained by Ruining Dong. Last updated 5 months ago.
dataimportsequencingannotationgeneticsvariantannotationcoveragevariantdetection
4.60 score 4 scripts