[Bioc-devel] VRanges-class positive strandness and locateVariants() strandawareness

Michael Lawrence lawrence.michael at gene.com
Wed Jun 10 18:26:15 CEST 2015


VRanges is supposed to enforce strand. The goal is to use "*" always,
for simplicity and consistency with the result of readVcf(). Is there
a use case for negative strand variants?

On Wed, Jun 10, 2015 at 5:54 AM, Robert Castelo <robert.castelo at upf.edu> wrote:
> Michael,
>
> regarding our email exchange three weeks ago, I found a couple of places in
> VariantAnnotation that IMO need to be updated to avoid enforcing strand on
> VRanges.
>
> these places occur when constructing and validating VRanges objects,
> concretely at:
>
> 1. file R/methods-VRanges-class.R at the VRanges class constructor:
>
> VRanges <-
>   function(seqnames = Rle(), ranges = IRanges(),
>            ref = character(), alt = NA_character_,
>            totalDepth = NA_integer_, refDepth = NA_integer_,
>            altDepth = NA_integer_, ..., sampleNames = NA_character_,
>            softFilterMatrix = FilterMatrix(matrix(nrow = length(gr), ncol =
> 0L),
>              FilterRules()),
>            hardFilters = FilterRules())
> {
>   gr <- GRanges(seqnames, ranges,
>                 strand = .rleRecycleVector("*", length(ranges)), ...)
> [...]
>
> that precludes setting the strand at construction time:
>
> library(VariantAnnotation)
> VRanges(seqnames="chr1", ranges=IRanges(1, 5), ref="T", alt="C", strand="-")
> Error in GRanges(seqnames, ranges, strand = .rleRecycleVector("*",
> length(ranges)),  :
>   formal argument "strand" matched by multiple actual arguments
>
>
> 2. R/AllClasses.R at the VRanges class validity function .valid.VRanges():
>
> .valid.VRanges.strand <- function(object) {
>   if (any(object at strand == "-"))
>     paste("'strand' must always be '+' or '*'")
> }
>
> [...]
>
> .valid.VRanges <- function(object)
> {
>   c(.valid.VRanges.ref(object),
>     .valid.VRanges.alt(object),
>     .valid.VRanges.strand(object),
>     .valid.VRanges.depth(object))
> }
>
> that prompts an error when variants annotated on the negative strand are
> detected:
>
> library(VariantAnnotation)
> example(VRanges)
> strand(vr) <- "-"
> c(vr)
> Error in validObject(.Object) :
>   invalid class “VRanges” object: 'strand' must always be '+' or '*'
>
>
> cheers,
>
> robert.
>
> On 05/22/2015 09:49 PM, Michael Lawrence wrote:
>>
>> This changed recently. VariantAnnotation in devel no longer enforces a
>> strand on VRanges, or at least it allows the "*" case.
>>
>>
>> On Fri, May 22, 2015 at 11:33 AM, Robert Castelo <robert.castelo at upf.edu
>> <mailto:robert.castelo at upf.edu>> wrote:
>>
>>     Hi,
>>
>>     I have encountered myself in a strange situation when using the
>>     function locateVariants() from VariantAnnotation with an input
>>     VRanges object. The problem is that some of the expected coding
>>     annotations are not showing up when using locateVariants() with
>>     default parameters.
>>
>>     After investigating this situation I think I found the reason, which
>>     does not look like a bug but I would like that you give me some
>>     clarification about the logic behind using locateVariants() with
>>     VRanges objects.
>>
>>     The documentation of the VRanges-class says that in this class of
>>     objects "The strand is always constrained to be positive (+).". I
>>     guess there may be a good reason for this but I could not find it in
>>     the documentation or googling about it.
>>
>>     This means that when you coerce a CollapsedVCF object (obtained, for
>>     example, from a VCF file via readVcf()) to a VRanges object, even
>>     though variants in the VCF may have no strand, they get a positive
>>     strand in the VRanges object.
>>
>>     The problem arises then, when you call locateVariants() with this
>>     VRanges object, because features on the negative strand are never
>>     going to overlap with the variants since, by default, the argument
>>     ignore.strand=FALSE.
>>
>>     Let me illustrate this with a toy example. Consider the SNP
>>     rs1129038
>>     (http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1129038) at
>>     chr15:28356859 with allels A/G. It is located on the 3' UTR of the
>>     gene HERC2 coded on the negative strand of the human reference
>>     genome. Let's build a toy VRanges object having this variant:
>>
>>     library(VariantAnnotation)
>>     vr <- VRanges(seqnames="chr15",
>>                    ranges=IRanges(28356859, 28356859),
>>                    ref="A", alt="G",
>>                    refDepth=5, altDepth=7,
>>                    totalDepth=12, sampleNames="A")
>>     strand(vr)
>>     factor-Rle of length 1 with 1 run
>>        Lengths: 1
>>        Values : +
>>     Levels(3): + - *
>>
>>     Let's build now its CollapsedVCF counterpart by using the
>>     corresponding coercion method and set the strand to "*":
>>
>>     vcf <- asVCF(vr)
>>     strand(vcf) <- "*"
>>
>>     Now run locateVariants() on both objects with UCSC annotations:
>>
>>     library(TxDb.Hsapiens.UCSC.hg19.knownGene)
>>     txdb <- TxDb.Hsapiens.UCSC.hg19.knownGene
>>
>>     locateVariants(vcf, txdb, region=AllVariants())
>>     GRanges object with 2 ranges and 9 metadata columns:
>>            seqnames               ranges strand | LOCATION  LOCSTART
>>     LOCEND   QUERYID        TXID         CDSID
>>     <Rle> <IRanges> <Rle> | <factor> <integer> <integer> <integer>
>>     <character> <IntegerList>
>>        [1]    chr15 [28356859, 28356859]      * | threeUTR        50 50
>>             1       55386
>>        [2]    chr15 [28356859, 28356859]      * | threeUTR        50 50
>>             1       55387
>>                 GENEID       PRECEDEID        FOLLOWID
>>     <character> <CharacterList> <CharacterList>
>>        [1]        8924
>>        [2]        8924
>>        -------
>>        seqinfo: 1 sequence from an unspecified genome; no seqlengths
>>
>>     locateVariants(vr, txdb, region=AllVariants())
>>     GRanges object with 1 range and 9 metadata columns:
>>            seqnames               ranges strand |   LOCATION  LOCSTART
>>     LOCEND   QUERYID      TXID         CDSID
>>     <Rle> <IRanges> <Rle> | <factor> <integer> <integer> <integer>
>>     <integer> <IntegerList>
>>        [1]    chr15 [28356859, 28356859]      + | intergenic <NA> <NA>
>>             1 <NA>
>>                 GENEID                         PRECEDEID        FOLLOWID
>>     <character> <CharacterList> <CharacterList>
>>        [1] <NA> 100132565,100289656,100616223,...            2567
>>        -------
>>        seqinfo: 1 sequence from an unspecified genome; no seqlengths
>>
>>     Note that while we get the 3' UTR annotation from the strandless VCF
>>     object we do not get it from the VRanges object with the positive
>>     strand. To make my point clear: this positive strand shows up when
>>     you coerce a strandless VCF object to a VRanges one, because
>>     positive strandness seems to be the convention for VRanges objects:
>>
>>     as(vcf, VRanges)
>>     VRanges object with 1 range and 1 metadata column:
>>            seqnames               ranges strand         ref
>>     alt     totalDepth       refDepth       altDepth
>>     <Rle> <IRanges> <Rle> <character> <characterOrRle> <integerOrRle>
>>     <integerOrRle> <integerOrRle>
>>        [1]    chr15 [28356859, 28356859]      +           A
>>        G             12              5              7
>>              sampleNames softFilterMatrix |      QUAL
>>     <factorOrRle> <matrix> | <numeric>
>>        [1]             A                  | <NA>
>>        -------
>>        seqinfo: 1 sequence from an unspecified genome; no seqlengths
>>        hardFilters: NULL
>>
>>
>>     Of course, if I run locateVariants() with the argument
>>     ignore.strand=TRUE, then I get the expected annotation:
>>
>>     locateVariants(vr, txdb, region=AllVariants(), ignore.strand=TRUE)
>>     GRanges object with 2 ranges and 9 metadata columns:
>>            seqnames               ranges strand | LOCATION  LOCSTART
>>     LOCEND   QUERYID        TXID         CDSID
>>     <Rle> <IRanges> <Rle> | <factor> <integer> <integer> <integer>
>>     <character> <IntegerList>
>>        [1]    chr15 [28356859, 28356859]      + | threeUTR       677
>>     677         1       55386
>>        [2]    chr15 [28356859, 28356859]      + | threeUTR       677
>>     677         1       55387
>>                 GENEID       PRECEDEID        FOLLOWID
>>     <character> <CharacterList> <CharacterList>
>>        [1]        8924
>>        [2]        8924
>>        -------
>>        seqinfo: 1 sequence from an unspecified genome; no seqlengths
>>
>>
>>     So, my question is, given that VRanges objects are enforced to have
>>     a positive strand, would not be better to have ignore.strand=TRUE as
>>     default in locateVariants?
>>
>>     Alternatively, I would recommend that locateVariants() issues a
>>     warning, or maybe an error, when the input object is VRanges and
>>     ignore.strand=FALSE.
>>
>>     Finally, out of curiosity, why a VRanges object enforces the
>>     positive strand in all its genomic ranges? Would not be better just
>>     taking the strand of the CollapsedVCF object when coercing the
>>     CollapsedVCF object to VRanges?
>>
>>
>>     thanks!!
>>
>>
>>     robert.
>>
>>     _______________________________________________
>>     Bioc-devel at r-project.org <mailto:Bioc-devel at r-project.org> mailing
>> list
>>     https://stat.ethz.ch/mailman/listinfo/bioc-devel
>>
>>
>
> --
> Robert Castelo, PhD
> Associate Professor
> Dept. of Experimental and Health Sciences
> Universitat Pompeu Fabra (UPF)
> Barcelona Biomedical Research Park (PRBB)
> Dr Aiguader 88
> E-08003 Barcelona, Spain
> telf: +34.933.160.514
> fax: +34.933.160.550
>
> _______________________________________________
> Bioc-devel at r-project.org mailing list
> https://stat.ethz.ch/mailman/listinfo/bioc-devel



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