comparison test/cnmops.xml @ 0:3ea49d2fa85f draft default tip

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date Fri, 07 Oct 2016 05:08:11 -0400
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1 <tool id="cnmops" name="cn.mops" version="1.0.0">
2 <description>cnv caller</description>
3 <requirements>
4 <requirement type="package" version="1.16.2">bioconductor-cn.mops</requirement>
5 </requirements>
6 <command interpreter="Rscript">
7 cnmops.R $args_file
8 </command>
9 <configfiles>
10 <configfile name="args_file">target=$targetFile
11 padding=$padding
12 mapping_mode=$mapping_mode
13 #for $i in $inputs
14 bam=${i.input}
15 bam_bai=${i.input.metadata.bam_index}
16 #if str($i.label.value) != "":
17 bam_label=${$i.label.value}
18 #else
19 bam_label=${i.input.dataset.name}
20 #end if
21 #end for
22 output=$output
23 #if str($advanced_options.advanced_options_select) == "yes"
24 advanced_mode=TRUE
25 $advanced_options.prior_impact=$prior_impact
26 $advanced_options.cyc=$cyc
27 $advanced_options.norm=$norm
28 $advanced_options.norm_type=$norm_type
29 $advanced_options.upper_threshold=$upper_threshold
30 $advanced_options.lower_threshold=$lower_threshold
31 $advanced_options.min_width=$min_width
32 $advanced_options.seq_alg=$seq_alg
33 $advanced_options.min_read_count=$min_read_count
34 $advanced_options.use_median=$use_median
35 #end if
36 </configfile>
37 </configfiles>
38 <inputs>
39 <param format="bed" name="targetFile" type="data" label="Target regions (BED)">
40 <validator type="unspecified_build" />
41 </param>
42 <param name="padding" type="integer" value="100" label="Padding" help="Amount of padding (in bp) to add around each target region" />
43 <param name="mapping_mode" type="select" label="Mapping mode" help="Select whether the mapping algorithm was run using paired or unpaired reads">
44 <option value="paired" selected="true">paired</option>
45 <option value="unpaired">unpaired</option>
46 </param>
47 <repeat name="inputs" title="BAM" min="2" help="Need to add more files? Use controls below.">
48 <param format="bam" name="input" type="data" label="BAM file">
49 <options>
50 <filter type="data_meta" ref="targetFile" key="dbkey"/>
51 </options>
52 </param>
53 <param name="label" type="text" size="30" value="" label="Label" help="Label to use in the output. If not given, the dataset name will be used instead">
54 <validator type="regex" message="Spaces are not allowed">^\S*$</validator>
55 </param>
56 </repeat>
57
58 <!-- Advanced options -->
59 <conditional name="advanced_options">
60 <param name="advanced_options_select" type="select" label="Show advanced options">
61 <option value="yes">Yes</option>
62 <option value="no" selected="true">No</option>
63 </param>
64 <when value="yes">
65 <param name="prior_impact" type="integer" value="10" label="Prior impact" help="Positive real value that reflects how strong the prior assumption affects the result. The higher the value the more samples will be assumed to have copy number 2." />
66 <param name="cyc" type="integer" value="20" label="Cycles" help="Positive integer that sets the number of cycles for the algorithm. Usually after less than 15 cycles convergence is reached." />
67 <param name="norm" type="boolean" truevalue="TRUE" falsevalue="FALSE" checked="true" label="Apply normalization" help="" />
68 <param name="norm_type" type="select" label="Normalization type" help="Mode of the normalization technique. Read counts will be scaled sample-wise.">
69 <option value="poisson" selected="true">poisson</option>
70 <option value="mean">mean</option>
71 <option value="min">min</option>
72 <option value="median">median</option>
73 <option value="quant">quant</option>
74 <option value="mode">mode</option>
75 </param>
76 <param name="upper_threshold" type="float" value="0.55" label="Cut-off for copy number gains" help="All CNV calling values above this value will be called as gain. The value should be set close to the log2 of the expected foldchange for copy number 3 or 4." />
77 <param name="lower_threshold" type="float" value="-0.8" label="Cut-off for copy number losses" help="All CNV calling values below this value will be called as loss. The value should be set close to the log2 of the expected foldchange for copy number 1 or 0." />
78 <param name="min_width" type="integer" value="5" label="Minimum width" help="Minimum number of segments a CNV should span." />
79 <param name="seq_alg" type="select" label="Segmentation algorithm" help="">
80 <option value="fast" selected="false">fast</option>
81 <option value="DNAcopy">DNAcopy</option>
82 </param>
83 <param name="min_read_count" type="integer" value="1" label="Minimum read count" help="If all samples are below this value the algorithm will return the prior knowledge. This prevents the algorithm from being applied to segments with very low coverage." />
84 <param name="use_median" type="boolean" truevalue="TRUE" falsevalue="FALSE" checked="false" label="Use median" help="Whether median instead of mean of a target region should be used for the CNV call." />
85 </when>
86 <when value="no" />
87 </conditional>
88 </inputs>
89 <outputs>
90 <data format="bed" name="output" label="${tool.name} on ${on_string}" />
91 </outputs>
92 <help>
93
94 **What it does**
95
96 This tool uses cn.mops (Copy Number estimation by a Mixture Of PoissonS) to call copy number variations
97 and aberrations (CNVs and CNAs) from targeted next generation sequencing (NGS) data.
98
99 **Output format**
100
101 ========== ========================
102 Column Description
103 ---------- ------------------------
104 chr Chromosome
105 starts Start of CNV region
106 ends End of CNV region
107 sampleName Name of the sample with CNV
108 median Median value of CNV
109 mean Mean value of CNV
110 CN Copy number class (see below)
111 ========== ========================
112
113 Copy number classes are identified as follows::
114
115 CN2: normal copy number for diploid samples
116 CN1: heterozygous deletion
117 CN0: homozygous deletion
118 CN3 - CN8: amplifications
119
120 For non-tumor samples the highest copy number class is 8 - higher copy numbers have not been reported.
121 CN8 is expected to have 4 times as many reads (for times as high coverage) as CN2.
122 For tumor samples very high copy numbers have been observed (e.g. CN64),
123 therefore the parameters of cn.mops have to be adjusted to allow for high copy numbers.
124 A way to set the parameters is given in https://gist.github.com/gklambauer/8955203
125
126 **License and citation**
127
128 This Galaxy tool is Copyright © 2015 `CRS4 Srl.`_ and is released under the `MIT license`_.
129
130 .. _CRS4 Srl.: http://www.crs4.it/
131 .. _MIT license: http://opensource.org/licenses/MIT
132
133 You can use this tool only if you agree to the license terms of: `cn.mops`_.
134
135 .. _cn.mops: http://bioconductor.org/packages/release/bioc/html/cn.mops.html
136
137 If you use this tool, please cite:
138
139 - |Cuccuru2014|_
140 - |Klambauer2012|_.
141
142 .. |Cuccuru2014| replace:: Cuccuru, G., Orsini, M., Pinna, A., Sbardellati, A., Soranzo, N., Travaglione, A., Uva, P., Zanetti, G., Fotia, G. (2014) Orione, a web-based framework for NGS analysis in microbiology. *Bioinformatics* 30(13), 1928-1929
143 .. _Cuccuru2014: http://bioinformatics.oxfordjournals.org/content/30/13/1928
144 .. |Klambauer2012| replace:: Klambauer, G., *et al.* (2012) cn.MOPS: Mixture of Poissons for Discovering Copy Number Variations in Next Generation Sequencing Data with a Low False Discovery Rate. *Nucleic Acids Research* 40, e69
145 .. _Klambauer2012: http://http://nar.oxfordjournals.org/content/40/9/e69
146 </help>
147 <citations>
148 <citation type="doi">10.1093/bioinformatics/btu135</citation>
149 <citation type="doi">10.1093/nar/gks003</citation>
150 </citations>
151 </tool>