Mercurial > repos > artbio > sigmut
annotate sigmut.xml @ 1:02861b32a62f draft default tip
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
author | artbio |
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date | Sun, 14 Jun 2020 20:27:29 -0400 |
parents | 9f48c5d97be8 |
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rev | line source |
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9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
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1 <tool id="SigProfiler" name="SigProfiler" version="@VERSION@"> |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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2 <description>performs mutational signature characterization from variant files</description> |
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9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
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3 |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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4 <macros> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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5 <import>sigmut_macros.xml</import> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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6 </macros> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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7 <expand macro="requirements"/> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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8 <expand macro="stdio"/> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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9 <command detect_errors="exit_code"><![CDATA[ |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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10 @VERSION@ |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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11 @pipefail@ |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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12 BIN=`which sigprofiler | sed 's,/sigprofiler,,g'` && |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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13 echo \$BIN && |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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14 chmod -R 777 \$BIN && |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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15 mkdir run_dir && |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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16 #if str( $set_analysis.choices ) == "get_sigmut": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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17 #if str( $set_analysis.vcfile_input.vcfile ) == "maf": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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18 #set $infile = 'run_dir/snps.maf' |
0
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
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19 ln -s -f '$set_analysis.vcfile_input.maf_file' '$infile' && |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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20 #else if str( $set_analysis.vcfile_input.vcfile ) == "icgc": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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21 #set $infile = 'run_dir/snps.txt' |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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22 ln -s -f '$set_analysis.vcfile_input.icgc_file' '$infile' && |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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23 #else if str( $set_analysis.vcfile_input.vcfile ) == "vcf": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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24 #set $infile = 'run_dir/snps.vcf' |
0
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
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25 ln -s -f '$set_analysis.vcfile_input.vcf_file' '$infile' && |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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26 #end if |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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27 #end if |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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28 |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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29 sigprofiler |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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30 |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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31 #if str( $set_analysis.choices ) == "install_genome": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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32 -ig $set_analysis.refgendwn > install.log |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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33 #else if str( $set_analysis.choices ) == "get_sigmut": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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34 -g $set_analysis.refgendat |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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35 -f 'run_dir' |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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36 -n "project" |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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37 -p |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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38 ## ! implement exome functionality when good test available |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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39 ## #if str( $set_analysis.exome ) == "true": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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40 ## -e |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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41 ## #end if |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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42 ## ! implement per chromosome functionality when good test available |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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43 ## #if str( $set_analysis.chrom_based ) == "true": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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44 ## -c |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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45 ## #end if |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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46 #if str( $set_analysis.tsb_stat ) == "true": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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47 -t |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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48 #end if |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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49 #if str( $set_analysis.gs ) == "true": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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50 -s |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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51 #end if |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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52 ##-b $set_analysis.bed ### to be done |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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53 && pdfcombine -f -s -o blinder.pdf run_dir/output/plots/*.pdf |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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54 && ls run_dir/logs/ |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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55 #if str( $set_analysis.tsb_stat ) == "true": |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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56 && tail -n +1 run_dir/output/TSB/*.txt > transcriptional_strand_biases.txt |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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57 #end if |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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58 #if $set_analysis.seqInfo: |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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59 && tail -n +1 run_dir/output/*/*.all > information.txt |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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60 #end if |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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61 #end if |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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62 ]]></command> |
0
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
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63 |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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64 <inputs> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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65 <conditional name="set_analysis"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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66 <param name="choices" type="select" label="Which of the following jobs do you want perform?"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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67 <option value="install_genome">Install 'de novo' a reference genome </option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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68 <option value="get_sigmut">Obtain the mutational signatures from VCF files</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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69 </param> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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70 <when value="install_genome"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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71 <param name="refgendwn" type="select" label="Reference genome" help="Get data from any of the following reference genomes:"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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72 <option value="GRCh37">Homo sapiens, GRCh37.p13 [GCA_000001405.14] </option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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73 <option value="GRCh38">Homo sapiens, GRCh38.p12 [GCA_000001405.27] </option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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74 <option value="mm9">Mus musculus, GRCm37 [GCA_000001635.18]</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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75 <option value="mm10">Mus musculus, GRCm38.p6 [GCA_000001635.8]</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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76 <option value="rn6">Rattus norvegicus, Rnor_6.0 [GCA_000001895.4]</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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77 <option value="c_elegans">Caenorhabditis elegans</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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78 <option value="dog">Dog</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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79 </param> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
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0
diff
changeset
|
80 </when> |
0
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
81 |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
82 <when value="get_sigmut"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
83 <conditional name="vcfile_input"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
84 <param name="vcfile" type="select" label="VC file" help="Select the format of your input data"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
85 <option value="maf">Mutation Annotation Format</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
86 <option value="icgc">Tab-separated file</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
87 <option value="vcf">Variant Call Format</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
88 </param> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
89 <when value='maf'> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
90 <param name="maf_file" type="data" format="maf" label="select VC file" help="Select the input file in MAF format." /> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
91 </when> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
92 <when value='icgc'> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
93 <param name="icgc_file" type="data" format="txt" label="select VC file" help="Select the input file in ICGC format." /> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
94 </when> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
95 <when value='vcf'> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
96 <param name="vcf_file" type="data" format="vcf" label="select VC file" help="Select the input file in VCF format." /> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
97 </when> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
98 </conditional> |
0
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
99 |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
100 <param name="refgendat" type="select" label="Reference genome to be analyzed" help="Use the following reference genome:"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
101 <option value="GRCh37">Homo sapiens, GRCh37.p13 [GCA_000001405.14] </option> |
0
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
102 <option value="GRCh38">Homo sapiens, GRCh38.p12 [GCA_000001405.27] </option> |
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
103 <option value="mm9">Mus musculus, GRCm37 [GCA_000001635.18]</option> |
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
104 <option value="mm10">Mus musculus, GRCm38.p6 [GCA_000001635.8]</option> |
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
105 <option value="rn6">Rattus norvegicus, Rnor_6.0 [GCA_000001895.4]</option> |
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
106 <option value="c_elegans">Caenorhabditis elegans</option> |
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
107 <option value="dog">Dog</option> |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
108 </param> |
0
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
109 |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
110 <!-- implement bed when test available --> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
111 <!-- <conditional name="bed_input"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
112 <param name="bedfile" type="select" label="BED file" help="Input a BED file"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
113 <option value="yes">Yes</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
114 <option value="no" selected="true">No</option> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
115 </param> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
116 <when value='yes'> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
117 <param name="bed_file" format="bed" type="data" label="Use a BED file containing the set of regions" help="Provide a BED file"/> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
118 </when> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
119 <when value='no'> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
120 </when> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
121 </conditional> --> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
122 <!-- implement exome functionality when test available --> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
123 <!-- <param name="exome" type="boolean" label="Use only the exome?" checked="False" help="Use exome"/> --> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
124 <!-- implement chrom_based functionality when test available --> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
125 <!--<param name="chrom_based" type="boolean" label="Create the matrices on a per chromosome basis?" checked="False" help="Show snvs"/> --> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
126 <param name="tsb_stat" type="boolean" truevalue="true" label="Performs a transcriptional strand bias test?" checked="False" help="Show snvs"/> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
127 <param name="seqInfo" type="boolean" truevalue="true" label="Export sequence information?" checked="False" help="Show sequence information"/> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
128 <param name="gs" type="boolean" label="Performs gene strand bias test?" checked="False" help="Show snvs"/> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
129 </when> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
130 </conditional> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
131 </inputs> |
0
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
132 |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
133 <outputs> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
134 <data format="txt" name="logref" label="Log file: Install a Reference Genome" |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
135 from_work_dir="./install.log"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
136 <filter>set_analysis['choices'] == 'install_genome'</filter> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
137 </data> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
138 <data format="txt" name="logsmt" label="Log file: Calculate Mutational Signatures" |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
139 from_work_dir="run_dir/logs/SigProfilerMatrixGenerator*.out"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
140 <filter>set_analysis['choices'] == 'get_sigmut'</filter> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
141 </data> |
0
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
142 |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
143 <data format="pdf" name="blinder" label="SBS Mutational Signatures plots (pdf)" |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
144 from_work_dir="./blinder.pdf" > |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
145 <filter>set_analysis['choices'] == 'get_sigmut' and set_analysis['plot'] is True</filter> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
146 </data> |
0
9f48c5d97be8
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit 67331c79ccaf0f2a3089e4ca0c62520397f90637"
artbio
parents:
diff
changeset
|
147 |
1
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
148 <!-- implement exome outputs when test available --> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
149 <!-- |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
150 <data format="txt" name="dbs_exome" label="DBS_exome.vcf"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
151 <filter>set_analysis['choices'] == 'get_sigmut' and set_analysis['exome'] is True</filter> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
152 </data> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
153 <data format="txt" name="snv_exome" label="SNV_exome.vcf"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
154 <filter>set_analysis['choices'] == 'get_sigmut' and set_analysis['exome'] is True</filter> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
155 </data> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
156 |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
157 <data format="txt" name="sig_exome" label="DBS 78 and so on Sig. Mut. EXOME"> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
158 <filter>set_analysis['choices'] == 'get_sigmut' and set_analysis['exome'] is True</filter> |
02861b32a62f
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/sigmut commit bba3eb3950b8772758cc6f19747172be7413ddd9"
artbio
parents:
0
diff
changeset
|
159 </data> |
02861b32a62f
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160 --> |
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161 <data format="txt" name="tsb" label="Transcriptional Strand Biases" |
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162 from_work_dir="./transcriptional_strand_biases.txt" > |
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163 <filter>set_analysis['choices'] == 'get_sigmut' and set_analysis['tsb_stat'] is True</filter> |
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164 </data> |
0
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165 |
1
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166 <data format="txt" name="seqinfo" label="Mutational Signature detailed infos" |
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167 from_work_dir="./information.txt" > |
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168 <filter>set_analysis['choices'] == 'get_sigmut' and set_analysis['seqInfo'] is True</filter> |
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169 </data> |
0
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170 |
1
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171 </outputs> |
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172 <tests> |
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173 <test> |
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174 <param name="choices" value="install_genome"/> |
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175 <param name="refgendwn" value="GRCh38"/> |
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176 <output name="logref" file="hg38_install.log" lines_diff="5"/> |
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177 </test> |
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178 <test> |
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179 <param name="choices" value="get_sigmut"/> |
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180 <param name="refgendat" value="GRCh38"/> |
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181 <param name="vcfile" value="vcf"/> |
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182 <param name="vcf_file" ftype="vcf" value="hg38.vcf"/> |
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183 <param name="plot" value="True"/> |
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184 <output name="logsmt" ftype="txt" file="sigmut.log" lines_diff="5" /> |
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185 <output name="blinder" file="hg38_blinder.pdf" lines_diff="5" /> |
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186 </test> |
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187 </tests> |
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188 |
1
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189 <help><![CDATA[ |
0
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190 |
1
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191 **SigProfiler** |
0
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192 |
1
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193 Background: |
0
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194 |
1
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195 Cancer genomes evince somatic mutations, which are imprinted by |
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196 different mutational processes, that give rise to diverse |
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197 mutational signatures. Their analysis from single base |
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198 substitutions and their immediate sequencing context, allows the |
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199 classification of small mutational events (including |
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200 substitutions, insertions, deletions, and doublet substitutions) |
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201 for better understanding the mutational processes that have |
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202 shaped a cancer genome. |
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203 |
1
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204 In this sense, SigProfiler constitutes a Galaxy-based wrapper of |
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205 a computational method developed by Ludmil B. Alexandrov, that |
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206 allow the exploration and visualization of mutational patterns |
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207 for all types of small mutational events. Specifically, the |
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208 following actions can be performed using SigProfiler wrapper: |
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209 |
1
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210 1. Identify and categorize the mutations based on possible |
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211 single nucleotide variants (SNVs), double base substitutions |
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212 (DBS), and insertions/deletions and provides further |
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213 transcriptional strand bias categorization. Afterwards, the |
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214 classification of these mutations are integrated into distinct |
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215 matrices. |
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216 SigProfiler provides matrix generation support for SBS-6, |
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217 SBS-96, SBS-1536, DBS-78 and DBS-1248. In addition, the |
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218 generation of mutational matrices of indels including |
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219 ID-28 and ID-83 are procured. Besides, an ID-8628 matrix that |
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220 extends the ID-83 classification is generated. |
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221 SigProfiler examines transcriptional strand bias for single base |
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222 substitutions, doublet base substitutions, and small indels. It |
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223 is evaluated whether a mutation occurs on the transcribed or the |
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224 non-transcribed strand of well-annotated protein coding genes of |
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225 a reference genome. Mutations found in the transcribed regions |
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226 of the genome are further subclassified as: (i) transcribed, |
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227 (ii) un-transcribed, (iii) bi-directional, or (iv) unknown. |
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228 |
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229 2. Generation of plots of all types of mutational signatures as |
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230 well as all types of mutational patterns in cancer genomes. |
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231 |
1
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232 Additional Information: |
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233 |
1
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234 Classification of Single Base substitutions (SBSs): |
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235 Single base substitutions (SBSs) are single DNA base-pairs |
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236 substituted with another single DNA base-pairs. The most |
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237 basic classification catalogues SBSs into six distinct |
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238 categories, including: C:G > A:T, C:G > G:C, C:G > T:A, |
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239 T:A > A:T, T:A > C:G, and T:A > G:C. In practice, a C:G > A:T |
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240 substitution is denoted as either a C > A mutation using the |
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241 pyrimidine base or as a G > T mutation using the purine base. |
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242 In consequence, the most commonly used SBS-6 classification of |
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243 single base substitutions can be written as: C > A, C > G, |
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244 C > T, T > A, T > C, and T > G. |
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245 Additionally, the SBS-6 classification can be further |
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246 expanded by considering the base-pairs immediately |
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247 adjacent 5′ and 3′ to the somatic mutation. Therefore, an |
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248 extended classification for analysis of mutational signatures is |
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249 SBS-96, where each of the classes in SBS-6 is further elaborated |
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250 using one base adjacent at the 5′ of the mutation and one base |
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251 adjacent at the 3′ of the mutation. |
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252 Logically, SBS-96 can be further elaborated by including |
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253 additional 5′ and 3′ adjacent context. Each of the six single |
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254 base substitutions in SBS-6 has 256 possible pentanucleotides |
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255 resulting in a classification with 1536 possible channels. |
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256 |
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257 Classification of Doublet Base substitutions (DBSs): |
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258 Doublet base substitutions (DBSs) are somatic mutations in which |
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259 a set of two adjacent DNA base-pairs is simultaneously |
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260 substituted with another set of two adjacent DNA base-pairs. An |
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261 example of a DBS is a set of CT:GA base-pairs mutating to a set |
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262 of AA:TT base-pairs, which is usually denoted as CT:GA > AA:TT. |
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263 It should be noted that a CT:GA > AA:TT mutation can be |
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264 equivalently written as either a CT > AA mutation. Overall, the |
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265 basic classification catalogues DBSs into 78 distinct categories |
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266 denoted as the DBS-78 matrix. |
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267 Similarly, we can expand the characterization of DBS mutations |
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268 by considering the 5′ and 3′ adjacent contexts. With |
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269 seventy-eight possible DBS mutations having sixteen possible |
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270 tetranucleotides each, this context expansion results in 1248 |
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271 possible channels denoted as the DBS-1248 context. |
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272 |
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273 Classification of small insertions and deletions (IDs): |
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274 A somatic insertion is the incorporation of a set of base-pairs |
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275 that lengthens a chromosome, while a somatic deletion is the |
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276 removing of a set of existing base-pairs from a given location |
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277 of a chromosome. |
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278 Unfortunately, indel classification cannot be performed |
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279 analogously to SBS or DBS classifications, where the immediate |
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280 sequencing context flanking each mutation was |
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281 utilized to subclassify these mutational events. |
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282 Consequently, indels (IDs) are classified as single base-pair |
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283 or longer events. They can be further subclassified as either a |
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284 C:G or a T:A indel, while longer indels can also be |
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285 subclassified based on their lengths: 2 bp, 3 bp, 4 bp, and |
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286 5 + bp. |
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287 |
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288 Incorporation of transcription Strand Bias (TSB): |
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289 The mutational classifications described above allow the |
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290 characterization of mutational patterns of single base |
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291 substitutions, doublet base substitutions, and small insertions |
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292 and deletions. Nevertheless, these classifications can be |
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293 further elaborated by incorporating strand bias. Mutations |
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294 from the same type are expected to be equally distributed across the two |
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295 DNA strands. However, in many cases an asymmetric number of mutations are |
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296 observed due to either one of the strands being preferentially |
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297 repaired or one of the strands having a higher propensity for |
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298 being damaged. To sub-classify mutations based on their |
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299 transcriptional strand bias, the pyrimidine orientation with |
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300 respect to the locations of well-annotated protein coding genes |
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301 on a genome is considered. |
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302 |
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303 Running SigProfiler: |
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304 |
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305 1. Reference Genomes: |
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306 Before using SigProfiler, the installation of a reference genome |
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307 is demanded. By default, the tool supports the following |
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308 reference genomes: |
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309 |
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310 Human: GRCh37 & GRCh38 |
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311 |
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312 Mouse: mm9 & mm10 |
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313 |
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314 Rat: rn6 |
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315 |
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316 Nematode: c_elegans |
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317 |
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318 A right command line should look like: |
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319 |
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320 sigprofiler -ig GRCh37 |
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321 |
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322 2. Mutational signatures calculation: |
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323 |
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324 After successful installation of a reference genome, SigProfiler |
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325 can be applied to files containing somatic mutations in multiple |
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326 formats, for transforming these mutational catalogues into mutational |
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327 matrices. Specifically, the tool can read data formats such as |
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328 Variant Calling Format (VCF) and Mutation Annotation Format |
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329 (MAF) and the following parameters should be provided for |
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330 generating the diverse matrices and plots: |
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331 |
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332 --name | -n = Project name |
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333 --genome | -g = Reference Genome |
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334 -files | -f = Absolute path where the input mutation files are located |
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335 |
1
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336 A right command line should look like: |
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337 |
1
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338 sigprofiler -n MYPROJECT -g GRCh37 -f /path_to_folder_with_VCF_files/ -p |
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339 |
1
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340 **Options** |
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341 --version show program's version number and exit |
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342 |
1
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343 -h, --help show this help message and exit |
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344 |
1
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345 --install_genome Install de novo any of the following reference |
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346 genomes: 'GRCh37', 'GRCh38', 'mm9' or 'mm10'. |
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347 |
1
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348 --name=APPENDIX Provide a project name |
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349 |
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350 --genome=NAME Provide a reference genome (ex: GRCh37, GRCh38, |
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351 mm9 or mm10). |
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352 |
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353 --files=Abs_path Path where the input vcf files are located |
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354 |
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355 --exome Use only the exome or not |
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356 |
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357 --bed=FILE BED file containing the set of regions to be used |
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358 in generating the matrices |
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359 |
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360 --chrom Create the matrices on a per chromosome basis |
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361 |
1
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362 --plot Generate the plots for each context |
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363 |
1
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364 --tsb Performs a transcriptional strand bias test for the |
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365 24, 384, and 6144 contexts |
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366 |
1
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367 --gs Performs a gene strand bias test |
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368 |
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369 For further info see: https://github.com/AlexandrovLab/SigProfilerMatrixGenerator |
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370 |
1
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371 ]]></help> |
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372 |
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373 <citations> |
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374 <citation type="doi">10.1186/s12864-019-6041-2</citation> |
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375 </citations> |
0
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376 |
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377 </tool> |