Variant annotations for structural variants


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Documentation for package ‘StructuralVariantAnnotation’ version 1.13.0

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.breakpointRanges Extracting the structural variants as a GRanges.
align_breakpoints Adjusting the nominal position of a pair of partnered breakpoint.
breakendRanges Extracting unpartnered breakend structural variants as a GRanges
breakendRanges-method Extracting unpartnered breakend structural variants as a GRanges
breakpointgr2bedpe Converting breakpoint GRanges to BEDPE-like dataframe
breakpointgr2pairs Converts a breakpoint GRanges object to a Pairs object
breakpointGRangesToVCF Converts the given breakpoint GRanges object to VCF format in breakend notation.
breakpointRanges Extracting the structural variants as a GRanges.
breakpointRanges-method Extracting the structural variants as a GRanges.
calculateReferenceHomology Calculates the length of inexact homology between the breakpoint sequence and the reference
countBreakpointOverlaps Counting overlapping breakpoints between two breakpoint sets
extractBreakpointSequence Extracts the breakpoint sequence.
extractReferenceSequence Returns the reference sequence around the breakpoint position
findBreakpointOverlaps Finding overlapping breakpoints between two breakpoint sets
findInsDupOverlaps Finds duplication events that are reported as inserts. As sequence alignment algorithms do no allow backtracking, long read-based variant callers will frequently report small duplication as insertion events. Whilst both the duplication and insertion representations result in the same sequence, this representational difference is problematic when comparing variant call sets.
findTransitiveCalls Identifies potential transitive imprecise calls that can be explained by traversing multiple breakpoints.
hasPartner Determines whether this breakend has a valid partner in this GRanges
isStructural Determining whether the variant is a structural variant
isStructural-method Determining whether the variant is a structural variant
isSymbolic Determining whether the variant is a symbolic allele.
isSymbolic-method Determining whether the variant is a symbolic allele.
numtDetect Detecting nuclear mitochondria fusion events.
pairs2breakpointgr Converts a breakpoint GRanges object to a Pairs object
partner GRanges representing the breakend coordinates of structural variants #@export Partner breakend for each breakend.
rtDetect Detecting retrotranscript insertion in nuclear genomes.
simpleEventLength Length of event if interpreted as an isolated breakpoint.
simpleEventType Type of simplest explanation of event. Possible types are: | Type | Description | | BND | Single breakend | | CTX | Interchromosomal translocation | | INV | Inversion. | | DUP | Tandem duplication | | INS | Insertion | | DEL | Deletion |
StructuralVariantAnnotation StructuralVariantAnnotation: a package for SV annotation