isSNV-methods: Identification of genomic variant types.

In Bioconductor/VariantAnnotation: Annotation of Genetic Variants

Identification of genomic variant types.

Description

Functions for identifying variant types such as SNVs, insertions, deletions, transitions, and structural rearrangements.

Usage

## S4 method for signature 'VRanges'
isSNV(x, ...)
## S4 method for signature 'ExpandedVCF'
isSNV(x, ...)
## S4 method for signature 'CollapsedVCF'
isSNV(x, ..., singleAltOnly = TRUE)

## S4 method for signature 'VRanges'
isInsertion(x, ...)
## S4 method for signature 'ExpandedVCF'
isInsertion(x, ...)
## S4 method for signature 'CollapsedVCF'
isInsertion(x, ..., singleAltOnly = TRUE)

## S4 method for signature 'VRanges'
isDeletion(x, ...)
## S4 method for signature 'ExpandedVCF'
isDeletion(x, ...)
## S4 method for signature 'CollapsedVCF'
isDeletion(x, ..., singleAltOnly = TRUE)

## S4 method for signature 'VRanges'
isIndel(x, ...)
## S4 method for signature 'ExpandedVCF'
isIndel(x, ...)
## S4 method for signature 'CollapsedVCF'
isIndel(x, ..., singleAltOnly = TRUE)

## S4 method for signature 'VRanges'
isDelins(x, ...)
## S4 method for signature 'ExpandedVCF'
isDelins(x, ...)
## S4 method for signature 'CollapsedVCF'
isDelins(x, ..., singleAltOnly = TRUE)

## S4 method for signature 'VRanges'
isTransition(x, ...)
## S4 method for signature 'ExpandedVCF'
isTransition(x, ...)
## S4 method for signature 'CollapsedVCF'
isTransition(x, ..., singleAltOnly = TRUE)

## S4 method for signature 'VRanges'
isSubstitution(x, ...)
## S4 method for signature 'ExpandedVCF'
isSubstitution(x, ...)
## S4 method for signature 'CollapsedVCF'
isSubstitution(x, ..., singleAltOnly = TRUE)

Arguments

x	A VCF or VRanges object.
singleAltOnly	A logical only applicable when x is a CollapsedVCF class. When TRUE (default) only variants with a single alternate allele are evaluated; all multi-alt variants evaluate to FALSE. When singleAltOnly=FALSE all ref / alt pairs for each variant are evaluated. If any ref / alt pairs meet the test criteria a value of TRUE is returned for the variant; this may result in a value of TRUE for a variant with a mixture of alternate alleles, some that pass the criteria and some that do not. To retain single ref / alt pairs that pass the critera use expand on the CollapsedVCF and then apply the test.
...	Arguments passed to other methods.

Details

All functions return a logical vector the length of x. Variants in gvcf files with NON_REF alt alleles return TRUE; structural variants return FALSE.

• isSNV: Reference and alternate alleles are both a single nucleotide long.

• isInsertion: Reference allele is a single nucleotide and the alternate allele is greater (longer) than a single nucleotide and the first nucleotide of the alternate allele matches the reference.

• isDeletion: Alternate allele is a single nucleotide and the reference allele is greater (longer) than a single nucleotide and the first nucleotide of the reference allele matches the alternate.

• isIndel: The variant is either a deletion or insertion as determined by isDeletion and isInsertion.

• isDelins: The variant is a deletion followed by an insertion, either of them involving two or more nucleotides.

• isSubstition: Reference and alternate alleles are the same length (1 or more nucleotides long).

• isTransition: Reference and alternate alleles are both a single nucleotide long. The reference-alternate pair interchange is of either two-ring purines (A <-> G) or one-ring pyrimidines (C <-> T).

Value

A logical vector the same length as x.

Author(s)

Michael Lawrence, Valerie Obenchain and Robert Castelo

Examples

  fl <- system.file("extdata", "ex2.vcf", package="VariantAnnotation")
  ## ---------------------------------------------------------------------
  ## VCF objects 
  ## ---------------------------------------------------------------------
  vcf <- readVcf(fl, "hg19")
  DataFrame(ref(vcf), alt(vcf))

  ## This vcf has transitions in row 2 and 3. When 'singleAltOnly=TRUE' 
  ## only the row 2 variant is identified:
  isTransition(vcf)

  ## Both row 2 and 3 are identified when 'singleAltOnly=FALSE':
  isTransition(vcf, singleAltOnly=FALSE)

  ## Expand the CollapsedVCF to ExpandedVCF
  evcf <- expand(vcf)
 
  ## All ref / alt pairs are now expanded and there is no need to 
  ## use 'singleAltOnly'. The return length is now 7 instead of 5:
  transition <- isTransition(evcf)
  transition
  DataFrame(ref(evcf)[transition], alt(evcf)[transition])
 
  ## ---------------------------------------------------------------------
  ## VRanges objects 
  ## ---------------------------------------------------------------------
  ## A VRanges object holds data from a VCF class in a completely
  ## 'flat' fashion. INFO and FORMAT variables for all subjects are
  ## 'repped' out such that each row is a unique combination of data.
  vr <- as(vcf, "VRanges")
  isSNV(vr, singleAltOnly=FALSE)

Bioconductor/VariantAnnotation documentation built on March 28, 2024, 10 a.m.