Mercurial > repos > iuc > gemini
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author | iuc |
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date | Mon, 12 Jan 2015 15:31:50 -0500 |
parents | 720cbfb4190d |
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<tool id="gemini_@BINARY@" name="GEMINI @BINARY@" version="@VERSION@.0"> <description>perform sample-wise gene-level burden calculations</description> <expand macro="requirements" /> <expand macro="version_command" /> <macros> <import>gemini_macros.xml</import> <token name="@BINARY@">burden</token> </macros> <command> <![CDATA[ gemini @BINARY@ --cases $cases --controls $controls $save_tscores $nonsynonymous $calpha --permutations $permutations #if float( str($min_aaf) ) >= 0.0: --min-aaf $min_aaf #end if #if float( str($max_aaf) ) >= 0.0: --max-aaf $max_aaf #end if "${ infile }" > "${ outfile }" ]]> </command> <expand macro="stdio" /> <inputs> <expand macro="infile" /> <param name="cases" size="30" type="text" value="" label="Space separated list of cases for association testing" help="(--cases)"/> <param name="controls" size="30" type="text" value="" label="Space separated list of controls for association testing" help="(--controls)"/> <param name="save_tscores" type="boolean" truevalue="--save_tscores" falsevalue="" checked="False" label="Save the permuted T-scores in the output file" help="(--save_tscores)"/> <param name="nonsynonymous" type="boolean" truevalue="--nonsynonymous" falsevalue="" checked="False" label="Count all nonsynonymous variants as contributing burden" help="(--nonsynonymous)"/> <param name="calpha" type="boolean" truevalue="--calpha" falsevalue="" checked="False" label="Run the C-alpha association test" help="(--calpha)"/> <param name="min_aaf" type="float" value="-1" size="5" label="The min. alt. allele frequency for a variant to be included" help="(--min-aaf)"> <!--validator type="in_range" min="0.0"/--> </param> <param name="max_aaf" type="float" value="-1" size="5" label="The max. alt. allele frequency for a variant to be included" help="(--max-aaf)"> <!--validator type="in_range" min="0.0"/--> </param> <param name="permutations" type="integer" value="1000" size="10" label="Number of permutations to run for the C-alpha test" help="(--permutations)"> <validator type="in_range" min="0"/> </param> </inputs> <outputs> <data name="outfile" format="tabular" /> </outputs> <tests> <test> </test> </tests> <help> **What it does** The burden tool provides a set of utilities to perform burden summaries on a per-gene, per sample basis. By default, it outputs a table of gene-wise counts of all high impact variants in coding regions for each sample. $ gemini burden test.burden.db gene M10475 M10478 M10500 M128215 WDR37 2 2 2 2 CTBP2 0 0 0 1 DHODH 1 0 0 0 @CITATION@ </help> <expand macro="citations"> <citation type="doi">10.1371/journal.pgen.1001322</citation><!-- c-alpha citation --> </expand> </tool>