Mercurial > repos > iuc > gemini
diff gemini_comp_hets.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_comp_hets.xml Mon Aug 25 17:15:54 2014 -0400 @@ -0,0 +1,61 @@ +<tool id="gemini_@BINARY@" name="GEMINI @BINARY@" version="@VERSION@.0"> + <description>Identifying potential compound heterozygotes</description> + <expand macro="requirements" /> + <expand macro="version_command" /> + <macros> + <import>gemini_macros.xml</import> + <token name="@BINARY@">comp_hets</token> + </macros> + <command> +<![CDATA[ + gemini @BINARY@ + + #if $report.report_selector != 'all': + --columns "${report.columns}" + #end if + + #if $filter.filter_selector == 'yes': + --filter "${filter.filter}" + #end if + $only_affected + $ignore_phasing + + "${ infile }" + > "${ outfile }" +]]> + </command> + <expand macro="stdio" /> + <inputs> + <param name="infile" type="data" format="sqlite" label="GEMINI database" /> + <expand macro="add_header_column" /> + <expand macro="column_filter" /> + <param name="only_affected" type="boolean" truevalue="--only-affected" falsevalue="" checked="False" + label="Report solely those compund heterozygotes impacted a sample labeled as affected" help="(--only-affected)"/> + <param name="ignore_phasing" type="boolean" truevalue="--ignore-phasing" falsevalue="" checked="False" + label="Ignore phasing when screening for compound hets" help="Candidates are inherently putative. (--ignore-phasing)"/> + <expand macro="filter" /> + </inputs> + <outputs> + <data name="outfile" format="tabular" label="${tool.name} on ${on_string}" /> + </outputs> + <tests> + <test> + </test> + </tests> + <help> +**What it does** + +Many recessive disorders are caused by compound heterozygotes. Unlike canonical recessive sites where the same recessive allele is +inherited from both parents at the _same_ site in the gene, compound heterozygotes occur when the individual’s phenotype is caused +by two heterozygous recessive alleles at _different_ sites in a particular gene. + +So basically, we are looking for two (typically loss-of-function (LoF)) heterozygous variants impacting the same gene at different loci. +The complicating factor is that this is _recessive_ and as such, we must also require that the consequential alleles at each heterozygous +site were inherited on different chromosomes (one from each parent). As such, in order to use this tool, we require that all variants are phased. +Once this has been done, the comp_hets tool will provide a report of candidate compound heterozygotes for each sample/gene. + + +@CITATION@ + </help> + <expand macro="citations"/> +</tool>