Mercurial > repos > iuc > gemini
diff gemini_roh.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 |
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--- a/gemini_roh.xml Fri Oct 16 13:55:09 2015 -0400 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,106 +0,0 @@ -<tool id="gemini_@BINARY@" name="GEMINI @BINARY@" version="@VERSION@.0"> - <description>Identifying runs of homozygosity</description> - <macros> - <import>gemini_macros.xml</import> - <token name="@BINARY@">roh</token> - </macros> - <expand macro="requirements" /> - <expand macro="stdio" /> - <expand macro="version_command" /> - <command> -<![CDATA[ - gemini @BINARY@ - --min-snps $min_snps - --min-total-depth $min_total_depth - --min-gt-depth $min_gt_depth - --min-size $min_size - --max-hets $max_hets - --max-unknowns $max_unknowns - #if $samples.strip() != '': - -s "${samples}" - #end if - "${ infile }" - > "${ outfile }" -]]> - </command> - <inputs> - <expand macro="infile" /> - - <param name="min_snps" type="integer" value="25" label="Minimum number of expected homozygous SNPs" help="default: 25 (--min-snps)"> - <validator type="in_range" min="0"/> - </param> - <param name="min_total_depth" type="integer" value="20" label="The minimum overall sequencing depth requiredfor a SNP to be considered" help="default: 20 (--min-total-depth)"> - <validator type="in_range" min="0"/> - </param> - <param name="min_gt_depth" type="integer" value="0" label="The minimum required sequencing depth underlying a given sample's genotype for a SNP to be considered" - help="default: 0 (--min-gt-depth)"> - <validator type="in_range" min="0"/> - </param> - <param name="min_size" type="integer" value="100000" label="Minimum run size in base pairs" help="default: 100000 (--min-size)"> - <validator type="in_range" min="1"/> - </param> - <param name="max_hets" type="integer" value="1" label="Maximum number of allowed hets in the run" help="default: 1 (--max-hets)"> - <validator type="in_range" min="1"/> - </param> - <param name="max_unknowns" type="integer" value="3" label="Maximum number of allowed unknowns in the run" help="default: 3 (-max-unknowns)"> - <validator type="in_range" min="0"/> - </param> - - <param name="samples" type="text" value="" label="Comma separated list of samples to screen for ROHs" help="e.g S120,S450 (-s)"/> - - </inputs> - - <outputs> - <data name="outfile" format="tabular" /> - </outputs> - <tests> - <test> - </test> - </tests> - <help> - -**What it does** - -=========================================================================== -``ROH``: Identifying runs of homozygosity -=========================================================================== -Runs of homozygosity are long stretches of homozygous genotypes that reflect -segments shared identically by descent and are a result of consanguinity or -natural selection. Consanguinity elevates the occurrence of rare recessive -diseases (e.g. cystic fibrosis) that represent homozygotes for strongly deleterious -mutations. Hence, the identification of these runs holds medical value. - -The 'roh' tool in GEMINI returns runs of homozygosity identified in whole genome data. -The tool basically looks at every homozygous position on the chromosome as a possible -start site for the run and looks for those that could give rise to a potentially long -stretch of homozygous genotypes. - -For e.g. for the given example allowing ``1 HET`` genotype (h) and ``2 UKW`` genotypes (u) -the possible roh runs (H) would be: - - -:: - - genotype_run = H H H H h H H H H u H H H H H u H H H H H H H h H H H H H h H H H H H - roh_run1 = H H H H h H H H H u H H H H H u H H H H H H H - roh_run2 = H H H H u H H H H H u H H H H H H H h H H H H H - roh_run3 = H H H H H u H H H H H H H h H H H H H - roh_run4 = H H H H H H H h H H H H H - -roh returned for --min-snps = 20 would be: - -:: - - roh_run1 = H H H H h H H H H u H H H H H u H H H H H H H - roh_run2 = H H H H u H H H H H u H H H H H H H h H H H H H - - -As you can see, the immediate homozygous position right of a break (h or u) would be the possible -start of a new roh run and genotypes to the left of a break are pruned since they cannot -be part of a longer run than we have seen before. - - -@CITATION@ - </help> - <expand macro="citations"/> -</tool>
