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Use a set of SNPs, insertions and deletions to modify a reference transcriptome

Usage

transmogrify(x, var, exons, ...)

# S4 method for class 'XStringSet,GRanges,GRanges'
transmogrify(
  x,
  var,
  exons,
  alt_col = "ALT",
  trans_col = "transcript_id",
  omit_ranges = NULL,
  tag = NULL,
  sep = "_",
  var_tags = FALSE,
  var_sep = "_",
  verbose = TRUE,
  mc.cores = 1,
  ...
)

# S4 method for class 'BSgenome,GRanges,GRanges'
transmogrify(
  x,
  var,
  exons,
  alt_col = "ALT",
  trans_col = "transcript_id",
  omit_ranges = NULL,
  tag = NULL,
  sep = "_",
  var_tags = FALSE,
  var_sep = "_",
  verbose = TRUE,
  mc.cores = 1,
  ...
)

# S4 method for class 'BSgenome,VcfFile,GRanges'
transmogrify(
  x,
  var,
  exons,
  alt_col = "ALT",
  trans_col = "transcript_id",
  omit_ranges = NULL,
  tag = NULL,
  sep = "_",
  var_tags = FALSE,
  var_sep = "_",
  verbose = TRUE,
  mc.cores = 1,
  which,
  ...
)

# S4 method for class 'XStringSet,VcfFile,GRanges'
transmogrify(
  x,
  var,
  exons,
  alt_col = "ALT",
  trans_col = "transcript_id",
  omit_ranges = NULL,
  tag = NULL,
  sep = "_",
  var_tags = FALSE,
  var_sep = "_",
  verbose = TRUE,
  mc.cores = 1,
  which,
  ...
)

Arguments

x

Reference genome as either a DNAStringSet or BSgenome

var

GRanges object containing the variants

exons

GRanges object with ranges representing exons

...

Passed to parallel::mclapply

alt_col

Column from var containing alternate bases

trans_col

Column from 'exons' containing the transcript_id

omit_ranges

GRanges object containing ranges to omit, such as PAR-Y regions, for example

tag

Optional tag to add to all sequence names which were modified

sep

Separator to place between seqnames names & tag

var_tags

logical(1) Add tags indicating which type of variant were incorporated, with 's', 'i' and 'd' representing SNPs, Insertions and Deletions respectively

var_sep

Separator between any previous tags and variant tags

verbose

logical(1) Include informative messages, or operate silently

mc.cores

Number of cores to be used when multi-threading via parallel::mclapply

which

GRanges object passed to VariantAnnotation::ScanVcfParam if using a VCF directly

Value

An XStringSet

Details

Produce a set of variant modified transcript sequences from a standard reference genome. Supported variants are SNPs, Insertions and Deletions

Ranges needing to be masked, such as the Y-chromosome, or Y-PAR can be provided.

It should be noted that this is a time consuming process Inclusion of a large set of insertions and deletions across an entire transcriptome can involve individually modifying many thousands of transcripts, which can be a computationally demanding task. Whilst this can be parallelised using an appropriate number of cores, this may also prove taxing for lower power laptops, and pre-emptively closing memory hungry programs such as Slack, or internet browers may be prudent.

Examples

library(GenomicRanges)
library(GenomicFeatures)
seq <- DNAStringSet(c(chr1 = "ACGTAAATGG"))
exons <- GRanges(c("chr1:1-3:-", "chr1:7-9:-"))
exons$transcript_id <- c("trans1")

# When using extractTranscriptSeqs -stranded exons need to be sorted by end
exons <- sort(exons, decreasing = TRUE, by = ~end)
exons
#> GRanges object with 2 ranges and 1 metadata column:
#>       seqnames    ranges strand | transcript_id
#>          <Rle> <IRanges>  <Rle> |   <character>
#>   [1]     chr1       7-9      - |        trans1
#>   [2]     chr1       1-3      - |        trans1
#>   -------
#>   seqinfo: 1 sequence from an unspecified genome; no seqlengths
trByExon <- splitAsList(exons, exons$transcript_id)

# Check the sequences
seq
#> DNAStringSet object of length 1:
#>     width seq                                               names               
#> [1]    10 ACGTAAATGG                                        chr1
extractTranscriptSeqs(seq, trByExon)
#> DNAStringSet object of length 1:
#>     width seq                                               names               
#> [1]     6 CATCGT                                            trans1

# Define some variants
var <- GRanges(c("chr1:2", "chr1:8"))
var$ALT <- c("A", "GGG")

# Include the variants adding tags to indicate a SNP and indel
# The exons GRanges object will be split by transcript internally
transmogrify(seq, var, exons, var_tags = TRUE)
#> 1 transcripts found with indels
#> DNAStringSet object of length 1:
#>     width seq                                               names               
#> [1]     8 CCCCTCTT                                          trans1_si