Mercurial > repos > iuc > gemini
diff gemini_comp_hets.xml @ 20:b5207530f991 draft default tip
planemo upload for repository https://github.com/galaxyproject/tools-devteam/tree/master/data_managers/data_manager_gemini_downloader commit e88029bb12e5262687267293f9d2a694eb00d3f0-dirty
| author | iuc |
|---|---|
| date | Tue, 29 Dec 2015 10:19:47 -0500 |
| parents | 27ce3de83007 |
| children |
line wrap: on
line diff
--- a/gemini_comp_hets.xml Fri Oct 16 13:55:09 2015 -0400 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,60 +0,0 @@ -<tool id="gemini_@BINARY@" name="GEMINI @BINARY@" version="@VERSION@.0"> - <description>Identifying potential compound heterozygotes</description> - <macros> - <import>gemini_macros.xml</import> - <token name="@BINARY@">comp_hets</token> - </macros> - <expand macro="requirements" /> - <expand macro="stdio" /> - <expand macro="version_command" /> - <command> -<![CDATA[ - gemini @BINARY@ - - #if $report.report_selector != 'all': - --columns "${report.columns}" - #end if - - @CMDLN_SQL_FILTER_FILTER_OPTION@ - - $only_affected - $ignore_phasing - - "${ infile }" - > "${ outfile }" -]]> - </command> - <inputs> - <expand macro="infile" /> - <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" /> - </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>
