view gemini_autosomal_recessive.xml @ 4:ba3abde6775b draft default tip

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<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 str($rec_or_dom) == 'recessive':
                ## start autosomal_recessive
                autosomal_recessive
            #else:
                ## start autosomal_dominant
                autosomal_dominant
            #end if

            #if str($report.report_selector) != 'all':
                --columns "${report.columns}"
            #end if

            @CMDLN_SQL_FILTER_FILTER_OPTION@

            -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>

        <expand macro="infile" />
        <expand macro="column_filter" />
        <expand macro="filter" />
        <expand macro="min_sequence_depth" />
        <param name="min_kindreds" size="4" type="integer" value="-1" label="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" />
    </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>