misshie / avsummary

GATK & ANNOVAR workflow tool

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#AvSummary ##Introduction GATK & ANNOVAR workflow tools

avsummary.rb

At first, accoding to the 'avconfig' file using Ruby DSL, 'ruby avsummary.rb annotate' generates two shell script files: a shell script to convert one-sample-per-file vcf files for SNVs and INDELs to ANNOVAR's input file (avsummary annotate) and a shellscript to run annotate-variation.pl. After runnning these shell scripts, execute 'ruby avsummary.rb integrate' and get an integrated table. You can filter the intehrated table using awk scripts.

vcf-gtselect.rb & vcf-locusselect.rb

If locus-based (physical position-based) set intersection or subtraction is necessary, please try GATK's ConvertAnnotation and run vcf-gtselect.rb to select locus. Locus-wise statistics (such as QUAL) can be restore using vcf-locusselect.rb

genewise.rb

Using gene-prediction annotation (such as GENCODEv12), gene-wise summarization and sample superimposition can be performed using genewise.rb

##Warning I am sorry for poor documentation. Feel free to contact me to ask how to use.

Copyright (c) 2012 Hiroyuki Mishima. See LICENSE.txt for further details.

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GATK & ANNOVAR workflow tool

License:MIT License


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