Mercurial > repos > iuc > gemini
diff gemini_autosomal_recessive.xml @ 0:720cbfb4190d draft
Imported from capsule None
author | iuc |
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date | Mon, 25 Aug 2014 17:15:54 -0400 |
parents | |
children | 93bb0cfacefb |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/gemini_autosomal_recessive.xml Mon Aug 25 17:15:54 2014 -0400 @@ -0,0 +1,70 @@ +<tool id="gemini_recessive_and_dominant" name="GEMINI autosomal recessive/dominant" version="@VERSION@.0"> + <description>Find variants meeting an autosomal recessive/dominant model</description> + <expand macro="requirements" /> + <expand macro="version_command" /> + <macros> + <import>gemini_macros.xml</import> + </macros> + <command> +<![CDATA[ + gemini + + #if $rec_or_dom == 'recessive': + ## start autosomal_recessive + autosomal_recessive + #else: + ## start autosomal_dominant + autosomal_dominant + #end if + + #if $report.report_selector != 'all': + --columns "${report.columns}" + #end if + + #if $filter.filter_selector == 'yes': + --filter "${filter.filter}" + #end if + + -d $d + #if int($min_kindreds) > 0: + --min-kindreds $min_kindreds + #end if + + "${ infile }" + > "${ outfile }" +]]> + </command> + <expand macro="stdio" /> + <inputs> + + <param name="rec_or_dom" type="select" label="Autosomal ..." help=""> + <option value="recessive">recessive</option> + <option value="dominant">dominant</option> + </param> + + <param name="infile" type="data" format="sqlite" label="GEMINI database" /> + <expand macro="column_filter" /> + <expand macro="filter" /> + <expand macro="min_sequence_depth" /> + <param name="min_kindreds" size="4" type="integer" value="-1" lebel="The min. number of kindreds that must have a candidate variant in a gene" + help="-1 means default values (--min-kindreds)" /> + + </inputs> + <outputs> + <data name="outfile" format="tabular" label="${tool.name} on ${on_string}" /> + </outputs> + <tests> + <test> + </test> + </tests> + <help> +**What it does** + +Assuming you have defined the familial relationships between samples when loading your VCF into GEMINI, one can leverage a +built-in tool for identifying variants that meet an autosomal recessive or dominant inheritance pattern. +The reported variants will be restricted to those variants having the potential to impact the function of affecting protein coding transcripts. + +@CITATION@ + </help> + <expand macro="citations"/> +</tool>