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Better test vcfs; Better docs and CLI args
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ckandoth committed Apr 9, 2014
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26 changes: 17 additions & 9 deletions README.md
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Expand Up @@ -16,22 +16,30 @@ Download the latest release of vcf2maf, and view the detailed usage manual:

To download properly versioned releases, [click here](https://github.com/ckandoth/vcf2maf/releases) for a list.

If you don't have [VEP](http://useast.ensembl.org/info/docs/tools/vep/index.html) or [snpEff](http://snpeff.sourceforge.net/) installed, see the sections below. VEP is preferred for it's CLIA-compliant [HGVS formats](http://www.hgvs.org/mutnomen/recs.html), and is used by default. So after installing VEP, you can test the script on the provided `test.vcf`:
If you don't have [VEP](http://useast.ensembl.org/info/docs/tools/vep/index.html) or [snpEff](http://snpeff.sourceforge.net/) installed, see the sections below. VEP is preferred for it's CLIA-compliant [HGVS formats](http://www.hgvs.org/mutnomen/recs.html), and is used by default. So after installing VEP, you can test the script like so:

perl vcf2maf.pl --input-vcf test.vcf --output-maf test.maf
perl vcf2maf.pl --input-vcf data/test.vcf --output-maf data/test.maf

If you have VEP in a different folder like `/opt/vep`, and cached in `/srv/vep`, then point the script there:
If you'd rather use snpEff, which runs much faster than VEP, there's an option for that, but make sure you ran snpEff with the `-sequenceOntolgy` option:

perl vcf2maf.pl --input-vcf data/test.vcf --output-maf data/test.snpeff.maf --use-snpeff

perl vcf2maf.pl --input-vcf test.vcf --output-maf test.maf --vep-path /opt/vep --vep-data /srv/vep
If you already have a VCF annotated with either VEP or snpEff, you can use those directly:

If you'd rather use snpEff, which runs much faster than VEP, there's an option for that:
perl vcf2maf.pl --input-vep data/test.vep.vcf --output-maf data/test.maf
perl vcf2maf.pl --input-snpeff data/test.snpeff.vcf --output-maf data/test.maf

perl vcf2maf.pl --input-vcf test.vcf --output-maf test.snpeff.maf --use-snpeff
To fill columns 16 and 17 of the output MAF with tumor/normal sample IDs, and to parse out genotypes and allele counts from the corresponding tumor/normal genotype columns in the VCF:

If you already have a VCF annotated with either VEP or snpEff, you can use those directly:
perl vcf2maf.pl --input-vcf data/test.vcf --output-maf data/test.maf --tumor-id WD1309 --normal-id NB1308

VCFs from variant callers like [VarScan](http://varscan.sourceforge.net/somatic-calling.html#somatic-output) use hardcoded sample IDs TUMOR/NORMAL in the genotype columns of the VCF. To have this script correctly parse the correct genotype columns, while still printing the proper IDs in the output MAF:

perl vcf2maf.pl --input-vcf data/test.vcf --output-maf data/test.maf --tumor-id WD1309 --normal-id NB1308 --vcf-tumor-id TUMOR --vcf-normal-id NORMAL

If you have VEP in a different folder like `/opt/vep`, and cached in `/srv/vep`, then point the script there:

perl vcf2maf.pl --input-vep test.vep.vcf --output-maf test.maf
perl vcf2maf.pl --input-snpeff test.snpeff.vcf --output-maf test.maf
perl vcf2maf.pl --input-vcf data/test.vcf --output-maf data/test.maf --vep-path /opt/vep --vep-data /srv/vep

Install VEP
-----------
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