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comparison test/cnmops.xml @ 0:3ea49d2fa85f draft default tip
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| author | ric |
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| date | Fri, 07 Oct 2016 05:08:11 -0400 |
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| -1:000000000000 | 0:3ea49d2fa85f |
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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> |
