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VcfFilterNotInPedigree

Pierre Lindenbaum edited this page May 3, 2016 · 6 revisions

##Motivation

Adds a FILTER NotInPedigree if the only not(homref) genotypes are not in a pedigree

##Compilation

Requirements / Dependencies

Download and Compile

$ git clone "https://github.com/lindenb/jvarkit.git"
$ cd jvarkit
$ make vcffilternotinpedigree

by default, the libraries are not included in the jar file, so you shouldn't move them (https://github.com/lindenb/jvarkit/issues/15#issuecomment-140099011 ). You can create a bigger but standalone executable jar by addinging standalone=yes on the command line:

$ git clone "https://github.com/lindenb/jvarkit.git"
$ cd jvarkit
$ make vcffilternotinpedigree standalone=yes

The required libraries will be downloaded and installed in the dist directory.

edit 'local.mk' (optional)

The a file local.mk can be created edited to override/add some paths.

For example it can be used to set the HTTP proxy:

http.proxy.host=your.host.com
http.proxy.port=124567

##Synopsis

$ java -jar dist/vcffilternotinpedigree.jar  [options] (stdin|file.vcf|file.vcf.gz) 

VCF Concatenation

This tool supports concatenated VCF on input. For each VCf on input, a VCF will be printed in the output. If there is more than one VCF on input, the output will be NOT a valid VCF but a file containing concatenated VCFs.

$ gunzip -c f1.vcf.gz f2.vcf.gz f3.vcf.gz |\
	java -jar dist/vcffilternotinpedigree.jar > out_3_vcfs.txt

If the filename is defined and ends with '.zip': each output VCF will be stored into one zip entry.

$ gunzip -c f1.vcf.gz f2.vcf.gz f3.vcf.gz |\
	java -jar dist/vcffilternotinpedigree.jar -o result.zip

Options

  • -o|--output (OUTPUT-FILE) Output file. Default:stdout. This tool supports concatenated VCF on input. For each VCf on input, a VCF will be printed in the output. If the filename is defined and ends with 'zip'. Each output VCF will be stored into one zip entry.
  • -f|--filter (VALUE) FILTER name. Will be set for variant where the only genotypes non-homref are NOT in the pedigree Default value : "NoGenotypeInPedigree".
  • -r|--remove remove the variant instead of setting the FILTER Default value : "false".
  • -s|--singleton (VALUE) Variant is flagged/FILTERed as SingletonAlt if the ALT if found in less or equal times 'singleton-times' in the genotypes Default value : "1".
  • -sf|--sfilter (VALUE) FILTER name for option singleton Default value : "SingletonAlt".
  • -h|--help print help
  • -version|--version show version and exit

##Source Code

Main code is: https://github.com/lindenb/jvarkit/blob/master/src/main/java/com/github/lindenb/jvarkit/tools/burden/VcfFilterNotInPedigree.java

$ 

Contribute

License

The project is licensed under the MIT license.

Citing

Should you cite vcffilternotinpedigree ? https://github.com/mr-c/shouldacite/blob/master/should-I-cite-this-software.md

The current reference is:

http://dx.doi.org/10.6084/m9.figshare.1425030

Lindenbaum, Pierre (2015): JVarkit: java-based utilities for Bioinformatics. figshare. http://dx.doi.org/10.6084/m9.figshare.1425030

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