Mercurial > repos > elixir-it > vinyl_optimizer
comparison optimizer_genetic.xml @ 3:221db2eb3c8e draft default tip
Uploaded
| author | elixir-it |
|---|---|
| date | Wed, 22 Jul 2020 19:23:14 +0000 |
| parents | 6e4eb4856874 |
| children |
comparison
equal
deleted
inserted
replaced
| 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. |
