Mercurial > repos > iuc > gemini
comparison gemini_burden.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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-1:000000000000 | 0:720cbfb4190d |
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1 <tool id="gemini_@BINARY@" name="GEMINI @BINARY@" version="@VERSION@.0"> | |
2 <description>perform sample-wise gene-level burden calculations</description> | |
3 <expand macro="requirements" /> | |
4 <expand macro="version_command" /> | |
5 <macros> | |
6 <import>gemini_macros.xml</import> | |
7 <token name="@BINARY@">burden</token> | |
8 </macros> | |
9 <command> | |
10 <![CDATA[ | |
11 gemini @BINARY@ | |
12 --cases $cases | |
13 --controls $controls | |
14 $save_tscores | |
15 $nonsynonymous | |
16 $calpha | |
17 --permutations $permutations | |
18 #if float( str($min_aaf) ) >= 0.0: | |
19 --min-aaf $min_aaf | |
20 #end if | |
21 #if float( str($max_aaf) ) >= 0.0: | |
22 --max-aaf $max_aaf | |
23 #end if | |
24 "${ infile }" | |
25 > "${ outfile }" | |
26 ]]> | |
27 | |
28 </command> | |
29 <expand macro="stdio" /> | |
30 <inputs> | |
31 <param name="infile" type="data" format="sqlite" label="GEMINI database" /> | |
32 | |
33 <param name="cases" size="30" type="text" value="" label="Space separated list of cases for association testing" help="(--cases)"/> | |
34 <param name="controls" size="30" type="text" value="" label="Space separated list of controls for association testing" help="(--controls)"/> | |
35 | |
36 <param name="save_tscores" type="boolean" truevalue="--save_tscores" falsevalue="" checked="False" | |
37 label="Save the permuted T-scores in the output file" help="(--save_tscores)"/> | |
38 | |
39 <param name="nonsynonymous" type="boolean" truevalue="--nonsynonymous" falsevalue="" checked="False" | |
40 label="Count all nonsynonymous variants as contributing burden" help="(--nonsynonymous)"/> | |
41 <param name="calpha" type="boolean" truevalue="--calpha" falsevalue="" checked="False" | |
42 label="Run the C-alpha association test" help="(--calpha)"/> | |
43 <param name="min_aaf" type="float" value="-1" size="5" label="The min. alt. allele frequency for a variant to be included" | |
44 help="(--min-aaf)"> | |
45 <!--validator type="in_range" min="0.0"/--> | |
46 </param> | |
47 <param name="max_aaf" type="float" value="-1" size="5" label="The max. alt. allele frequency for a variant to be included" | |
48 help="(--max-aaf)"> | |
49 <!--validator type="in_range" min="0.0"/--> | |
50 </param> | |
51 | |
52 <param name="permutations" type="integer" value="1000" size="10" label="Number of permutations to run for the C-alpha test" | |
53 help="(--permutations)"> | |
54 <validator type="in_range" min="0"/> | |
55 </param> | |
56 | |
57 </inputs> | |
58 <outputs> | |
59 <data name="outfile" format="tabular" label="${tool.name} on ${on_string}" /> | |
60 </outputs> | |
61 <tests> | |
62 <test> | |
63 </test> | |
64 </tests> | |
65 <help> | |
66 **What it does** | |
67 | |
68 The burden tool provides a set of utilities to perform burden summaries on a per-gene, per sample basis. | |
69 By default, it outputs a table of gene-wise counts of all high impact variants in coding regions for each sample. | |
70 | |
71 $ gemini burden test.burden.db | |
72 gene M10475 M10478 M10500 M128215 | |
73 WDR37 2 2 2 2 | |
74 CTBP2 0 0 0 1 | |
75 DHODH 1 0 0 0 | |
76 | |
77 @CITATION@ | |
78 </help> | |
79 <expand macro="citations"> | |
80 <citation type="doi">10.1371/journal.pgen.1001322</citation><!-- c-alpha citation --> | |
81 </expand> | |
82 </tool> |