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Use GATK tool SVAnnotate for functional consequence annotation #342
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Great work! Always happy to net 800 fewer lines and simplify the WDLs while fixing bugs and improving performance! A couple of minor suggestions.
Just checking: does the GATK docker need to be updated in dockers.json
?
-V ~{vcf} \ | ||
-O ~{outfile} \ | ||
--protein-coding-gtf ~{protein_coding_gtf} \ | ||
~{if defined(noncoding_bed) then "--non-coding-bed " + noncoding_bed else ""} \ |
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~{if defined(noncoding_bed) then "--non-coding-bed " + noncoding_bed else ""} \ | |
~{"--non-coding-bed " + noncoding_bed} \ |
Same for the others. Unless there was a miniwdl issue with this?
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I don't think this was the issue with miniwdl
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set -euo pipefail | ||
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gatk --java-options "-Xmx~{java_mem_mb}m" SVAnnotate \ |
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What do you think about adding an String additional_args
input that would let the user specify arbitrary arguments not built into the wdl (e.g. a requester pays project id)?
No, the current Updated the way optional arguments are handled, added an optional additional_args parameter, validated with womtool, and tested successfully with default inputs (did not try with providing additional_args). |
Updates
Replace
svtk annotate
with GATK toolSVAnnotate
for functional consequence annotation duringAnnotateVcf.wdl
.AnnotateFunctionalConsequences.wdl
that runsSVAnnotate
with a protein-coding GTF and optionally a BED file of noncoding elements, with optional tool parameters exposed.AnnotateFunctionalConsequences
as a subworkflow duringAnnotateVcf.wdl
. Scattering should not be necessary for a small / medium sized cohort as SVAnnotate runs in ~25-30 mins on an unfiltered VCF with ~2500 samples, so scattering was not implemented, but it may need to be run separately per contig for very large cohorts.Testing
AnnotateVcf.wdl
successfully with 1KG ref panel with cromshell