comparison optimizer_genetic.xml @ 3:221db2eb3c8e draft default tip

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author elixir-it
date Wed, 22 Jul 2020 19:23:14 +0000
parents 6e4eb4856874
children
comparison
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2:6e4eb4856874 3:221db2eb3c8e
4 <requirement type="package" >perl</requirement> 4 <requirement type="package" >perl</requirement>
5 <requirement type="package" >r-base</requirement> 5 <requirement type="package" >r-base</requirement>
6 <requirement type="package" >r-genalg</requirement> 6 <requirement type="package" >r-genalg</requirement>
7 </requirements> 7 </requirements>
8 <command> <![CDATA[ 8 <command> <![CDATA[
9 ln -s $__tool_directory__/score_complete_alt_M.pl 2>$log && 9 ln -s $__tool_directory__/score_complete_alt_M.pl &&
10 ln -s $__tool_directory__/GENEO_VINYL.R 2>> $log && 10 ln -s $__tool_directory__/GENEO_VINYL.R &&
11 ln -s $fileR fileR && 11 ln -s $fileR fileR &&
12 ln -s $fileC fileC && 12 ln -s $fileC fileC &&
13 13
14 14
15 15
83 83
84 -XL $XL 84 -XL $XL
85 85
86 ###OUTPUT 86 ###OUTPUT
87 -ofile $ofile 87 -ofile $ofile
88
89 2>>$log
88 90
89 2>>$log
90 91
91 92
92 93
93 ]]> 94 ]]>
94 </command> 95 </command>
139 140
140 <!--others--> 141 <!--others-->
141 142
142 </inputs> 143 </inputs>
143 <outputs> 144 <outputs>
145 <data format="tsv" name="ofile" label="${tool.name} on ${on_string}: tsv "/>
144 <data format="txt" name="log" label="${tool.name} on ${on_string}: log file "/> 146 <data format="txt" name="log" label="${tool.name} on ${on_string}: log file "/>
145 <data format="tsv" name="ofile" label="${tool.name} on ${on_string}: tsv "/>
146 </outputs> 147 </outputs>
147 <stdio> 148 <stdio>
148 </stdio> 149 </stdio>
149 <tests> 150 <tests>
150 <test> 151 <test>
151 </test> 152 <param name="fileR" value="TSI_annotated.vcf" ftype="vcf" />
153 <param name="fileC" value="sorrentino_annotated.vcf" ftype="vcf" />
154 <param name="lgenes" value="DCM_genes.tabular" ftype="tabular" />
155 <param name="qfile" value="qfile.txt" ftype="txt" />
156 <param name="kfile" value="kfile.txt" ftype="txt" />
157 <param name="efile" value="efile.txt" ftype="txt" />
158 <param name="sfile" value="sfile.txt" ftype="txt" />
159 <output name="ofile" file="output_optimizer.tsv" ftype="tsv" />
160 <output name="log" file="log.txt" ftype="txt" />
161 </test>
152 </tests> 162 </tests>
153 <help> 163 <help>
154 **What it does** 164 **What it does**
155 VINYL is a software designed to assist in variant prioritization in medium-large cohort of patients. The program computes an aggregate score, which is based on an extensive collection of publicly available annotations, in order to identify/prioritize variants that are likely to be pathogenic or have a clinical significance. In order to derive an optimal cut off score for the variants, VINYL uses a strategy based on "survival analysis", where the pathogenicity score distribution of the affected individuals is compared with a matched cohort of unaffected individuals. 165 VINYL is a software designed to assist in variant prioritization in medium-large cohort of patients. The program computes an aggregate score, which is based on an extensive collection of publicly available annotations, in order to identify/prioritize variants that are likely to be pathogenic or have a clinical significance. In order to derive an optimal cut off score for the variants, VINYL uses a strategy based on "survival analysis", where the pathogenicity score distribution of the affected individuals is compared with a matched cohort of unaffected individuals.
156 To facilitate the usage of the software, VINYL is provided in the form of a public Galaxy instance, based on the Laniakea suite. To ensure the maximum level of security, VINYL uses Encrypted data volumes for the storage of the data. 166 To facilitate the usage of the software, VINYL is provided in the form of a public Galaxy instance, based on the Laniakea suite. To ensure the maximum level of security, VINYL uses Encrypted data volumes for the storage of the data.