writeVcf no longer writes records for ungenotyped data
1
2
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@daniel-cameron-6227
Last seen 8.1 years ago
Australia

VariantAnnotation_1.8.13 was writing records correctly, but VariantAnnotation_1.12.3 no longer writes ungenotyped data to disk. The VCF headers are successfully written but variants are not. The source code indicates the problem is that VariantAnnotation:::.makeVcfGeno does not write the records to disk as they are flushed by the C .make_vcf_geno function which is only called if genotypes exist.

As a workaround, I am using writeLines(c(VariantAnnotation:::.makeVcfHeader(vcf), VariantAnnotation:::.makeVcfMatrix(NULL, vcf)), file) instead of writeVcf(vcf, file) but a proper fix would be very much appreciated.

 


 

> sessionInfo()
R version 3.1.2 (2014-10-31)
Platform: x86_64-pc-linux-gnu (64-bit)

locale:
[1] C

attached base packages:
[1] stats4    parallel  stats     graphics  grDevices utils     datasets
[8] methods   base

other attached packages:
[1] VariantAnnotation_1.12.3 Rsamtools_1.18.1         Biostrings_2.34.0
[4] XVector_0.6.0            GenomicRanges_1.18.1     GenomeInfoDb_1.2.2
[7] IRanges_2.0.0            S4Vectors_0.4.0          BiocGenerics_0.12.0

loaded via a namespace (and not attached):
 [1] AnnotationDbi_1.28.1    BBmisc_1.8              BSgenome_1.34.0
 [4] BatchJobs_1.5           Biobase_2.26.0          BiocParallel_1.0.0
 [7] DBI_0.3.1               GenomicAlignments_1.2.1 GenomicFeatures_1.18.2
[10] RCurl_1.95-4.3          RSQLite_1.0.0           XML_3.98-1.1
[13] base64enc_0.1-2         biomaRt_2.22.0          bitops_1.0-6
[16] brew_1.0-6              checkmate_1.5.0         codetools_0.2-9
[19] digest_0.6.4            fail_1.2                foreach_1.4.2
[22] iterators_1.0.7         rtracklayer_1.26.1      sendmailR_1.2-1
[25] stringr_0.6.2           tools_3.1.2             zlibbioc_1.12.0

 

variantannotation • 1.3k views
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@valerie-obenchain-4275
Last seen 2.3 years ago
United States

Thanks Daniel, I'll look into it.

By ungenotyped data do you mean GT is './.' or there is no GT field at all? To be sure I address your specific case, can you provide a small sample file off-line?

Valerie

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No GT field at all. The following script reproduces the problem:

library(VariantAnnotation)
f <- file("test.vcf")
writeLines(c(
  "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO",
  "chr1\t1\tvariant1\tA\t[chr1:1[a\t1\t.\tATTR=value",
  "chr2\t2\tvariant2\tA\t[chr2:2[a\t2\t.\tATTR=value"
  ), f)
close(f)
vcf <- readVcf("test.vcf", "hg19")
writeVcf(vcf, "test-unchanged-expect-2-records.vcf")
writeVcf(vcf[fixed(vcf)$QUAL==1,], "test-subset-expect-1-record.vcf")

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1
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Thanks for the example. Now fixed in release (1.12.4) and devel (1.13.11).

The bug was a hold over from when data were written out from R. As you've seen, we've since moved the writing down to C. Thanks for reporting the bug.

Valerie

 

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I am using "VariantAnnotation_1.12.9", I am reading in VCF using readVcf, then writing out using writeVcf, and no-call genotypes get converted to ref, ie.: "./." becomes "0/0", is this normal?

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I don't see that behavior in release (1.12.9) or devel (1.13.25). No-call genotypes are read in as a single dot '.' and written out the same; they are not replaced by '0/0'.

In this test file all GT are './.':

fl <- system.file("unitTests", "cases", "no_INFO_header.vcf", 
                  package="VariantAnnotation")
vcf <- readVcf(fl, "")
> geno(vcf)$GT
              587338
1:2020003_G/A "."   
1:2158344_C/T "."   
1:2179799_C/T "."   
1:2229439_C/G "."   
1:2229827_G/A "."

This has always been the behavior in read/writeVcf(). If there is a need/request, I can look into reading and writing as './.' instead of the single dot.

If you have a reproducible example of where './.' is written as '0/0' please post it or send to me off line.

Valerie

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