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comparison gemini_roh.xml @ 0:720cbfb4190d draft

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Imported from capsule None
author iuc
date Mon, 25 Aug 2014 17:15:54 -0400
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children 93bb0cfacefb
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-1:000000000000 0:720cbfb4190d
1 <tool id="gemini_@BINARY@" name="GEMINI @BINARY@" version="@VERSION@.0">
2 <description>Identifying runs of homozygosity</description>
3 <expand macro="requirements" />
4 <expand macro="version_command" />
5 <macros>
6 <import>gemini_macros.xml</import>
7 <token name="@BINARY@">roh</token>
8 </macros>
9 <command>
10 <![CDATA[
11 gemini @BINARY@
12 --min-snps $min_snps
13 --min-total-depth $min_total_depth
14 --min-gt-depth $min_gt_depth
15 --min-size $min_size
16 --max-hets $max_hets
17 --max-unknowns $max_unknowns
18 #if $samples.strip() != '':
19 -s "${samples}"
20 #end if
21 "${ infile }"
22 > "${ outfile }"
23 ]]>
24 </command>
25 <expand macro="stdio" />
26 <inputs>
27 <param name="infile" type="data" format="sqlite" label="GEMINI database" />
28
29 <param name="min_snps" type="integer" value="25" size="5" label="Minimum number of expected homozygous SNPs" help="default: 25 (--min-snps)">
30 <validator type="in_range" min="0"/>
31 </param>
32 <param name="min_total_depth" type="integer" value="20" size="10" label="The minimum overall sequencing depth requiredfor a SNP to be considered" help="default: 20 (--min-total-depth)">
33 <validator type="in_range" min="0"/>
34 </param>
35 <param name="min_gt_depth" type="integer" value="0" size="10" label="The minimum required sequencing depth underlying a given sample's genotype for a SNP to be considered"
36 help="default: 0 (--min-gt-depth)">
37 <validator type="in_range" min="0"/>
38 </param>
39 <param name="min_size" type="integer" value="100000" size="10" label="Minimum run size in base pairs" help="default: 100000 (--min-size)">
40 <validator type="in_range" min="1"/>
41 </param>
42 <param name="max_hets" type="integer" value="1" size="5" label="Maximum number of allowed hets in the run" help="default: 1 (--max-hets)">
43 <validator type="in_range" min="1"/>
44 </param>
45 <param name="max_unknowns" type="integer" value="3" size="5" label="Maximum number of allowed unknowns in the run" help="default: 3 (-max-unknowns)">
46 <validator type="in_range" min="0"/>
47 </param>
48
49 <param name="samples" size="30" type="text" value="" label="Comma separated list of samples to screen for ROHs" help="e.g S120,S450 (-s)"/>
50
51 </inputs>
52
53 <outputs>
54 <data name="outfile" format="tabular" label="${tool.name} on ${on_string}" />
55 </outputs>
56 <tests>
57 <test>
58 </test>
59 </tests>
60 <help>
61
62 **What it does**
63
64 ===========================================================================
65 ``ROH``: Identifying runs of homozygosity
66 ===========================================================================
67 Runs of homozygosity are long stretches of homozygous genotypes that reflect
68 segments shared identically by descent and are a result of consanguinity or
69 natural selection. Consanguinity elevates the occurrence of rare recessive
70 diseases (e.g. cystic fibrosis) that represent homozygotes for strongly deleterious
71 mutations. Hence, the identification of these runs holds medical value.
72
73 The 'roh' tool in GEMINI returns runs of homozygosity identified in whole genome data.
74 The tool basically looks at every homozygous position on the chromosome as a possible
75 start site for the run and looks for those that could give rise to a potentially long
76 stretch of homozygous genotypes.
77
78 For e.g. for the given example allowing ``1 HET`` genotype (h) and ``2 UKW`` genotypes (u)
79 the possible roh runs (H) would be:
80
81
82 ::
83
84 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
85 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
86 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
87 roh_run3 = H H H H H u H H H H H H H h H H H H H
88 roh_run4 = H H H H H H H h H H H H H
89
90 roh returned for --min-snps = 20 would be:
91
92 ::
93
94 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
95 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
96
97
98 As you can see, the immediate homozygous position right of a break (h or u) would be the possible
99 start of a new roh run and genotypes to the left of a break are pruned since they cannot
100 be part of a longer run than we have seen before.
101
102
103 @CITATION@
104 </help>
105 <expand macro="citations"/>
106 </tool>