-
Notifications
You must be signed in to change notification settings - Fork 133
GroupByGene
Pierre Lindenbaum edited this page Dec 13, 2013
·
5 revisions
##Motivation
Group VCF data by gene/transcript. By default it tries to use data from VEP and SnpEff
##Compilation
See also Compilation.
$ ant groupbygene
##Options
Option | Description |
---|---|
-X | XML ouput |
-T (tag) | also use the tag in the INFO column to get the name of the gene. Optional. Can be used multiple times. |
-h | get help (this screen) |
-v | print version and exit. |
-L (level) | log level. One of java.util.logging.Level . |
- 13 Dec 2013 : Fixed major bug in prediction parser
##Example ###Delimited output
$ curl -s -k "https://raw.github.com/arq5x/gemini/master/test/test4.vep.snpeff.vcf" |\
java -jar dist/groupbygene.jar |\
head | column -t
#chrom min.POS max.POS gene.name gene.type samples.affected count.variations M10475 M10478 M10500 M128215
chr10 52004315 52004315 ASAH2 snpeff-gene-name 2 1 0 0 1 1
chr10 52004315 52004315 ASAH2 vep-gene-name 2 1 0 0 1 1
chr10 52497529 52497529 ASAH2B snpeff-gene-name 2 1 0 1 1 0
chr10 52497529 52497529 ASAH2B vep-gene-name 2 1 0 1 1 0
chr10 48003992 48003992 ASAH2C snpeff-gene-name 3 1 1 1 1 0
chr10 48003992 48003992 ASAH2C vep-gene-name 3 1 1 1 1 0
chr10 126678092 126678092 CTBP2 snpeff-gene-name 1 1 0 0 0 1
chr10 126678092 126678092 CTBP2 vep-gene-name 1 1 0 0 0 1
chr10 135336656 135369532 CYP2E1 snpeff-gene-name 3 2 0 2 1 1
###XML output
$ curl -s -k "https://raw.github.com/arq5x/gemini/master/test/test4.vep.snpeff.vcf" |\
java -jar dist/groupbygene.jar -X |\
xmllint --format -
<?xml version="1.0" encoding="UTF-8"?>
<genes>
<!-- Command line: -X-->
<!--Version 2c13f6f369faf3d076ccc9420b5284cd990c6892-->
<samples count="4">
<sample>M10475</sample>
<sample>M10478</sample>
<sample>M10500</sample>
<sample>M128215</sample>
</samples>
<gene name="ASAH2" type="snpeff-gene-name" chrom="chr10" min.POS="52004315" max.POS="52004315" affected="2" variations="1">
<sample name="M10500" count="1">
<genotype pos="52004315" ref="T" A1="C" A2="C"/>
</sample>
<sample name="M128215" count="1">
<genotype pos="52004315" ref="T" A1="C" A2="C"/>
</sample>
</gene>
<gene name="ASAH2" type="vep-gene-name" chrom="chr10" min.POS="52004315" max.POS="52004315" affected="2" variations="1">
<sample name="M10500" count="1">
(...)
<sample name="M10475" count="1">
<genotype pos="72057435" ref="C" A1="C" A2="T"/>
</sample>
</gene>
<gene name="ENST00000572003" type="vep-ensembl-transcript-name" chrom="chr16" min.POS="72057435" max.POS="72057435" affected="1" variations="1">
<sample name="M10475" count="1">
<genotype pos="72057435" ref="C" A1="C" A2="T"/>
</sample>
</gene>
<gene name="ENST00000572887" type="vep-ensembl-transcript-name" chrom="chr16" min.POS="72057435" max.POS="72057435" affected="1" variations="1">
<sample name="M10475" count="1">
<genotype pos="72057435" ref="C" A1="C" A2="T"/>
</sample>
</gene>
<gene name="ENST00000573843" type="vep-ensembl-transcript-name" chrom="chr16" min.POS="72057435" max.POS="72057435" affected="1" variations="1">
<sample name="M10475" count="1">
<genotype pos="72057435" ref="C" A1="C" A2="T"/>
</sample>
</gene>
<gene name="ENST00000573922" type="vep-ensembl-transcript-name" chrom="chr16" min.POS="72057435" max.POS="72057435" affected="1" variations="1">
<sample name="M10475" count="1">
<genotype pos="72057435" ref="C" A1="C" A2="T"/>
</sample>
</gene>
<gene name="ENST00000574309" type="vep-ensembl-transcript-name" chrom="chr16" min.POS="72057435" max.POS="72057435" affected="1" variations="1">
<sample name="M10475" count="1">
<genotype pos="72057435" ref="C" A1="C" A2="T"/>
</sample>
</gene>
</genes>
##See also