Mercurial > repos > artbio > mutational_patterns
comparison mutational_patterns.xml @ 18:8d9f31389f33 draft
"planemo upload for repository https://github.com/ARTbio/tools-artbio/tree/master/tools/mutational_patterns commit 1cb9c8fd0c74943a8e6de4c63ac5e4a84ef27430"
author | artbio |
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date | Sun, 17 Oct 2021 15:51:05 +0000 |
parents | 8c6ee1c2248f |
children | 69f09dff98f9 |
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1 <tool id="mutational_patterns" name="Analyse Mutational Patterns/Signatures" version="3.2.0+galaxy2"> | 1 <tool id="mutational_patterns" name="Analyse Mutational Patterns/Signatures" version="3.2.0+galaxy3"> |
2 <description>from genomic variations in vcf files</description> | 2 <description>from genomic variations in vcf files</description> |
3 <requirements> | 3 <requirements> |
4 <requirement type="package" version="3.2.0=r41hdfd78af_0">bioconductor-mutationalpatterns</requirement> | 4 <requirement type="package" version="3.2.0=r41hdfd78af_0">bioconductor-mutationalpatterns</requirement> |
5 <requirement type="package" version="1.1.1l=h7f98852_0">openssl</requirement> | |
6 <requirement type="package" version="3.3.5=r41hc72bb7e_0">r-ggplot2</requirement> | |
5 <requirement type="package" version="1.6.6=r41hc72bb7e_1">r-optparse</requirement> | 7 <requirement type="package" version="1.6.6=r41hc72bb7e_1">r-optparse</requirement> |
6 <requirement type="package" version="0.2.20=r41h03ef668_1002">r-rjson</requirement> | 8 <requirement type="package" version="0.2.20=r41h03ef668_1002">r-rjson</requirement> |
7 <requirement type="package" version="0.21.0=r41h03ef668_1004">r-nmf</requirement> | 9 <requirement type="package" version="0.21.0=r41h03ef668_1004">r-nmf</requirement> |
8 <requirement type="package" version="2.3=r41hc72bb7e_1003">r-gridextra</requirement> | 10 <requirement type="package" version="2.3=r41hc72bb7e_1003">r-gridextra</requirement> |
9 <requirement type="package" version="1.4.3=r41hdfd78af_3">bioconductor-bsgenome.hsapiens.ucsc.hg19</requirement> | 11 <requirement type="package" version="1.4.3=r41hdfd78af_3">bioconductor-bsgenome.hsapiens.ucsc.hg19</requirement> |
10 <requirement type="package" version="1.4.3=r41hdfd78af_3">bioconductor-bsgenome.hsapiens.ucsc.hg38</requirement> | 12 <requirement type="package" version="1.4.3=r41hdfd78af_3">bioconductor-bsgenome.hsapiens.ucsc.hg38</requirement> |
11 <!-- | |
12 <requirement type="package" version="1.3.1000=r40_4">bioconductor-bsgenome.hsapiens.ncbi.grch38</requirement> | |
13 <requirement type="package" version="0.99.1=r40_4">bioconductor-bsgenome.hsapiens.1000genomes.hs37d5</requirement> | |
14 --> | |
15 <!-- | 13 <!-- |
16 install more bioconda genomes | 14 install more bioconda genomes |
17 bioconductor-bsgenome.mmusculus.ucsc.mm9 | 15 bioconductor-bsgenome.mmusculus.ucsc.mm9 |
18 bioconductor-bsgenome.mmusculus.ucsc.mm10 | 16 bioconductor-bsgenome.mmusculus.ucsc.mm10 |
19 --> | 17 --> |
48 --newsignum $set_denovo.newsignum | 46 --newsignum $set_denovo.newsignum |
49 --output_denovo $denovo | 47 --output_denovo $denovo |
50 --sigmatrix $sigmatrix | 48 --sigmatrix $sigmatrix |
51 #end if | 49 #end if |
52 | 50 |
53 #if $set_cosmic.choices == 'yes': | 51 #if $set_preset.choices == 'yes': |
54 --cosmic_version '$set_cosmic.cosmic_version' | 52 |
55 --signum '$set_cosmic.signum' | 53 #if $set_preset.set_signature_input.input_signature_choices == 'cosmic' |
56 --output_cosmic $cosmic | 54 --cosmic_version '$set_preset.set_signature_input.cosmic_version' |
57 #if $set_cosmic.contrib_matrix_out == 'yes' | 55 #end if |
56 | |
57 #if $set_preset.set_signature_input.input_signature_choices == 'user_signatures' | |
58 --own_signatures '$set_preset.set_signature_input.own_matrix' | |
59 #end if | |
60 | |
61 --signum '$set_preset.signum' | |
62 --output_sigpattern $sig_contrib | |
63 | |
64 #if $set_preset.contrib_matrix_out == 'yes' | |
58 --sig_contrib_matrix $sig_contrib_matrix | 65 --sig_contrib_matrix $sig_contrib_matrix |
59 #end if | 66 #end if |
67 | |
60 #end if | 68 #end if |
61 | 69 |
62 #if $rdata_out | 70 #if $rdata_out |
63 --rdata '$rdata' | 71 --rdata '$rdata' |
64 #end if | 72 #end if |
67 | 75 |
68 ]]></command> | 76 ]]></command> |
69 <inputs> | 77 <inputs> |
70 <param name="vcfs" type="data_collection" format="vcf" label="VCF file(s) collection" multiple="true"/> | 78 <param name="vcfs" type="data_collection" format="vcf" label="VCF file(s) collection" multiple="true"/> |
71 <param name="genome" type="select" label="Reference Genome"> | 79 <param name="genome" type="select" label="Reference Genome"> |
72 <!-- <option value="BSgenome.Hsapiens.1000genomes.hs37d5">BSgenome.Hsapiens.1000genomes.hs37d5</option> --> | |
73 <!-- <option value="BSgenome.Hsapiens.NCBI.GRCh38">BSgenome.Hsapiens.NCBI.GRCh38</option> --> | |
74 <option value="BSgenome.Hsapiens.UCSC.hg19">BSgenome.Hsapiens.UCSC.hg19</option> | 80 <option value="BSgenome.Hsapiens.UCSC.hg19">BSgenome.Hsapiens.UCSC.hg19</option> |
75 <option value="BSgenome.Hsapiens.UCSC.hg38" selected="true">BSgenome.Hsapiens.UCSC.hg38</option> | 81 <option value="BSgenome.Hsapiens.UCSC.hg38" selected="true">BSgenome.Hsapiens.UCSC.hg38</option> |
76 <!--<option value="BSgenome.Mmusculus.UCSC.mm10">BSgenome.Mmusculus.UCSC.mm10</option> | |
77 <option value="BSgenome.Mmusculus.UCSC.mm9">BSgenome.Mmusculus.UCSC.mm9</option>--> | |
78 </param> | 82 </param> |
79 <conditional name="set_levels"> | 83 <conditional name="set_levels"> |
80 <param name="choices" type="select" label="samples have levels/labels for grouping them in the analysis" display="radio" | 84 <param name="choices" type="select" label="samples have levels/labels for grouping them in the analysis" display="radio" |
81 help="for instance, female/male or genotype-1/genotype-2/genotype-3, etc."> | 85 help="for instance, female/male or genotype-1/genotype-2/genotype-3, etc."> |
82 <option value="no" selected="true">No</option> | 86 <option value="no" selected="true">No</option> |
106 <when value="no" /> | 110 <when value="no" /> |
107 </conditional> | 111 </conditional> |
108 | 112 |
109 <conditional name="set_denovo"> | 113 <conditional name="set_denovo"> |
110 <param name="choices" type="select" label="Extract de novo signatures with MutationalPatterns" display="radio"> | 114 <param name="choices" type="select" label="Extract de novo signatures with MutationalPatterns" display="radio"> |
111 <option value="yes" selected="true">Yes</option> | 115 <option value="yes">Yes</option> |
112 <option value="no">No</option> | 116 <option value="no" selected="true">No</option> |
113 </param> | 117 </param> |
114 <when value="yes"> | 118 <when value="yes"> |
115 <param name="nrun" type="integer" value="10" min="10" max="200" | 119 <param name="nrun" type="integer" value="10" min="10" max="200" |
116 label="Number of cycles to find best fitting of signatures" | 120 label="Number of cycles to find best fitting of signatures" |
117 help="High values extend the computational time"/> | 121 help="High values extend the computational time"/> |
123 help="High values extend the computational time. Note also that you cannot extract more signature than the number of available samples in the study"/> | 127 help="High values extend the computational time. Note also that you cannot extract more signature than the number of available samples in the study"/> |
124 </when> | 128 </when> |
125 <when value="no" /> | 129 <when value="no" /> |
126 </conditional> | 130 </conditional> |
127 | 131 |
128 <conditional name="set_cosmic"> | 132 <conditional name="set_preset"> |
129 <param name="choices" type="select" label="Decompose with Cosmic signatures" display="radio"> | 133 <param name="choices" type="select" label="Decompose with preset signatures" display="radio"> |
130 <option value="yes" selected="true">Yes</option> | 134 <option value="yes" selected="true">Yes</option> |
131 <option value="no">No</option> | 135 <option value="no">No</option> |
132 </param> | 136 </param> |
133 <when value="yes"> | 137 <when value="yes"> |
138 <conditional name="set_signature_input"> | |
139 <param name="input_signature_choices" type="select" label="type of signatures" display="radio"> | |
140 <option value="cosmic" selected="true">COSMIC signatures</option> | |
141 <option value="user_signatures">Use your own signature matrix</option> | |
142 </param> | |
143 <when value="cosmic"> | |
144 <param name="cosmic_version" type="select" label="Version of the Cosmic signature set"> | |
145 <option value="v2" selected="true">Cosmic v2, March 2015</option> | |
146 <option value="v3">Cosmic v3, May 2019</option> | |
147 <option value="v3.1">Cosmic v3.1, June 2020</option> | |
148 <option value="v3.2">Cosmic v3.2, March 2021</option> | |
149 </param> | |
150 </when> | |
151 <when value="user_signatures"> | |
152 <param name="own_matrix" type="data" format="tabular" | |
153 label="A tab-separated matrix describing elementary signatures" | |
154 help="see https://cancer.sanger.ac.uk/signatures/documents/453/COSMIC_v3.2_SBS_GRCh38.txt for the required format" /> | |
155 </when> | |
156 </conditional> | |
134 <param name="signum" type="integer" value="3" min="2" max="30" | 157 <param name="signum" type="integer" value="3" min="2" max="30" |
135 label="selects the N most significant signatures in samples to express mutational patterns" | 158 label="selects the N most significant signatures in samples to express mutational patterns" |
136 help="an integer between 2 and 30 signature types from cosmic"/> | 159 help="an integer between 2 and the number of elementary signatures in your signature matrix"/> |
137 <param name="cosmic_version" type="select" label="Version of the Cosmic signature set"> | |
138 <option value="v2" selected="true">Cosmic v2, March 2015</option> | |
139 <option value="v3">Cosmic v3, May 2019</option> | |
140 <option value="v3.1">Cosmic v3.1, June 2020</option> | |
141 <option value="v3.2">Cosmic v3.2, March 2021</option> | |
142 </param> | |
143 <param name="contrib_matrix_out" type="select" label="Output Signature Contribution table ?" | 160 <param name="contrib_matrix_out" type="select" label="Output Signature Contribution table ?" |
144 help="Output the normalized signatures contributions for further visualization" > | 161 help="Output the normalized signatures contributions for further visualization" > |
145 <option value="no" selected="true">No</option> | 162 <option value="no" selected="true">No</option> |
146 <option value="yes">Yes</option> | 163 <option value="yes">Yes</option> |
147 </param> | 164 </param> |
148 </when> | 165 </when> |
149 <when value="no" /> | 166 <when value="no" /> |
150 </conditional> | 167 </conditional> |
151 <param name="rdata_out" type="boolean" checked="false" label="Output RData file?" help="Output all the data used by R to construct the tables and plots, can be loaded into R" /> | 168 <param name="rdata_out" type="boolean" checked="false" label="Output RData file?" help="Output all the data used by R to construct the tables and plots, can be loaded into R" /> |
152 </inputs> | 169 </inputs> |
153 <outputs> | 170 <outputs> |
154 <data name="spectrum" format="pdf" label="Mutational Spectrum"> | 171 <data name="spectrum" format="pdf" label="Mutational Spectrum"> |
158 <filter>set_denovo['choices'] == "yes"</filter> | 175 <filter>set_denovo['choices'] == "yes"</filter> |
159 </data> | 176 </data> |
160 <data name="sigmatrix" format="tabular" label="De novo signatures probability matrix"> | 177 <data name="sigmatrix" format="tabular" label="De novo signatures probability matrix"> |
161 <filter>set_denovo['choices'] == "yes"</filter> | 178 <filter>set_denovo['choices'] == "yes"</filter> |
162 </data> | 179 </data> |
163 <data name="cosmic" format="pdf" label="Cosmic signatures"> | 180 <data name="sig_contrib" format="pdf" label="Signature contributions"> |
164 <filter>set_cosmic['choices'] == "yes"</filter> | 181 <filter>set_preset['choices'] == "yes"</filter> |
165 </data> | 182 </data> |
166 <data name="sig_contrib_matrix" format="tabular" label="${tool.name}: Signature contribution table"> | 183 <data name="sig_contrib_matrix" format="tabular" label="${tool.name}: Signature contribution table"> |
167 <filter>set_cosmic['choices'] == "yes" and set_cosmic['contrib_matrix_out'] == "yes"</filter> | 184 <filter>set_preset['choices'] == "yes" and set_preset['contrib_matrix_out'] == "yes"</filter> |
168 </data> | 185 </data> |
169 | 186 |
170 <data name="rdata" format="rdata" label="${tool.name}: RData file"> | 187 <data name="rdata" format="rdata" label="${tool.name}: RData file"> |
171 <filter>rdata_out</filter> | 188 <filter>rdata_out</filter> |
172 </data> | 189 </data> |
173 | 190 |
174 </outputs> | 191 </outputs> |
175 <tests> | 192 <tests> |
176 <!-- cosmic signatures with cosmic V3 --> | 193 <!-- user defined (v3.2 restricted 30 minus 27) --> |
177 <test> | 194 <test> |
178 <param name="vcfs"> | 195 <param name="vcfs"> |
179 <collection type="list"> | 196 <collection type="list"> |
180 <element name="6" value="F.vcf"/> | 197 <element name="6" value="F.vcf"/> |
181 <element name="7" value="G.vcf"/> | 198 <element name="7" value="G.vcf"/> |
189 <param name="choices" value="no"/> | 206 <param name="choices" value="no"/> |
190 </conditional> | 207 </conditional> |
191 <conditional name="set_denovo"> | 208 <conditional name="set_denovo"> |
192 <param name="choices" value="no"/> | 209 <param name="choices" value="no"/> |
193 </conditional> | 210 </conditional> |
194 <conditional name="set_cosmic"> | 211 <conditional name="set_preset"> |
195 <param name="choices" value="yes"/> | 212 <param name="choices" value="yes"/> |
213 <conditional name="set_signature_input"> | |
214 <param name="input_signature_choices" value="user_signatures" /> | |
215 <param name="own_matrix" value="user_defined_signature.tsv" ftype="tabular"/> | |
216 </conditional> | |
196 <param name="contrib_matrix_out" value="yes" /> | 217 <param name="contrib_matrix_out" value="yes" /> |
197 <param name="cosmic_version" value="v3"/> | 218 </conditional> |
198 </conditional> | 219 <param name="signum" value="4" /> |
199 <param name="signum" value="3" /> | 220 <output name="sig_contrib" file="user_output.pdf" compare="sim_size"/> |
200 <output name="cosmic" file="cosmic_output_v3.pdf" compare="sim_size"/> | 221 <output name="sig_contrib_matrix" file="sig_contrib_table_user_defined.tsv" compare="sim_size"/> |
201 <output name="sig_contrib_matrix" file="sig_contrib_table_v3.tsv" compare="sim_size"/> | 222 </test> |
202 </test> | 223 <!-- cosmic v3.2 --> |
203 | |
204 <!-- cosmic signatures --> | |
205 <test> | 224 <test> |
206 <param name="vcfs"> | 225 <param name="vcfs"> |
207 <collection type="list"> | 226 <collection type="list"> |
208 <element name="6" value="F.vcf"/> | 227 <element name="6" value="F.vcf"/> |
209 <element name="7" value="G.vcf"/> | 228 <element name="7" value="G.vcf"/> |
217 <param name="choices" value="no"/> | 236 <param name="choices" value="no"/> |
218 </conditional> | 237 </conditional> |
219 <conditional name="set_denovo"> | 238 <conditional name="set_denovo"> |
220 <param name="choices" value="no"/> | 239 <param name="choices" value="no"/> |
221 </conditional> | 240 </conditional> |
222 <conditional name="set_cosmic"> | 241 <conditional name="set_preset"> |
223 <param name="choices" value="yes"/> | 242 <param name="choices" value="yes"/> |
243 <conditional name="set_signature_input"> | |
244 <param name="input_signature_choices" value="cosmic" /> | |
245 <param name="cosmic_version" value="v3.2"/> | |
246 </conditional> | |
224 <param name="contrib_matrix_out" value="yes" /> | 247 <param name="contrib_matrix_out" value="yes" /> |
225 </conditional> | 248 </conditional> |
226 <param name="signum" value="3" /> | 249 <param name="signum" value="3" /> |
227 <output name="cosmic" file="cosmic_output1.pdf" compare="sim_size"/> | 250 <output name="sig_contrib" file="cosmic_output_v3.pdf" compare="sim_size"/> |
228 <output name="sig_contrib_matrix" file="sig_contrib_table.tsv" compare="sim_size"/> | 251 <output name="sig_contrib_matrix" file="sig_contrib_table_v3.tsv" compare="sim_size"/> |
229 </test> | 252 </test> |
230 | 253 <!-- cosmic v2 --> |
231 <!-- cosmic signature on single sample --> | |
232 <test> | |
233 <param name="vcfs"> | |
234 <collection type="list"> | |
235 <element name="1" value="G.vcf"/> | |
236 </collection> | |
237 </param> | |
238 <param name="genome" value="BSgenome.Hsapiens.UCSC.hg38"/> | |
239 <conditional name="set_spectrum"> | |
240 <param name="choices" value="no"/> | |
241 </conditional> | |
242 <conditional name="set_denovo"> | |
243 <param name="choices" value="no"/> | |
244 </conditional> | |
245 <conditional name="set_cosmic"> | |
246 <param name="choices" value="yes"/> | |
247 </conditional> | |
248 <param name="signum" value="5" /> | |
249 <output name="cosmic" file="cosmic_output2.pdf" compare="sim_size" delta="50000"/> | |
250 </test> | |
251 | |
252 <!-- simple profile --> | |
253 <test> | |
254 <param name="vcfs"> | |
255 <collection type="list"> | |
256 <element name="1" ftype="vcf" value="G.vcf"/> | |
257 <element name="2" ftype="vcf" value="H.vcf"/> | |
258 </collection> | |
259 </param> | |
260 <param name="genome" value="BSgenome.Hsapiens.UCSC.hg38"/> | |
261 <conditional name="set_levels"> | |
262 <param name="choices" value="yes"/> | |
263 </conditional> | |
264 <param name="levels" value="GH_levels.tab" ftype="tabular"/> | |
265 <conditional name="set_spectrum"> | |
266 <param name="choices" value="yes"/> | |
267 </conditional> | |
268 <conditional name="set_denovo"> | |
269 <param name="choices" value="no"/> | |
270 </conditional> | |
271 <conditional name="set_cosmic"> | |
272 <param name="choices" value="no"/> | |
273 </conditional> | |
274 <output name="spectrum" file="spectrum_output1.pdf" compare="sim_size"/> | |
275 </test> | |
276 | |
277 <!-- de novo signatures --> | |
278 <test> | 254 <test> |
279 <param name="vcfs"> | 255 <param name="vcfs"> |
280 <collection type="list"> | 256 <collection type="list"> |
281 <element name="6" value="F.vcf"/> | 257 <element name="6" value="F.vcf"/> |
282 <element name="7" value="G.vcf"/> | 258 <element name="7" value="G.vcf"/> |
283 <element name="8" value="H.vcf"/> | 259 <element name="8" value="H.vcf"/> |
284 <element name="9" value="I.vcf"/> | 260 <element name="9" value="I.vcf"/> |
285 </collection> | 261 </collection> |
286 </param> | 262 </param> |
287 <param name="genome" value="BSgenome.Hsapiens.UCSC.hg38"/> | 263 <param name="genome" value="BSgenome.Hsapiens.UCSC.hg38"/> |
288 <conditional name="set_spectrum"> | 264 <param name="levels" value="FGHI_levels.tab" ftype="tabular"/> |
289 <param name="choices" value="no"/> | 265 <conditional name="set_spectrum"> |
290 </conditional> | 266 <param name="choices" value="no"/> |
291 <conditional name="set_denovo"> | 267 </conditional> |
292 <param name="choices" value="yes"/> | 268 <conditional name="set_denovo"> |
293 </conditional> | 269 <param name="choices" value="no"/> |
294 <conditional name="set_cosmic"> | 270 </conditional> |
271 <conditional name="set_preset"> | |
272 <param name="choices" value="yes"/> | |
273 <conditional name="set_signature_input"> | |
274 <param name="input_signature_choices" value="cosmic" /> | |
275 <param name="cosmic_version" value="v2"/> | |
276 </conditional> | |
277 <param name="contrib_matrix_out" value="yes" /> | |
278 </conditional> | |
279 <param name="signum" value="3" /> | |
280 <output name="sig_contrib" file="cosmic_output1.pdf" compare="sim_size"/> | |
281 <output name="sig_contrib_matrix" file="sig_contrib_table.tsv" compare="sim_size"/> | |
282 </test> | |
283 <!-- simple spectrum --> | |
284 <test> | |
285 <param name="vcfs"> | |
286 <collection type="list"> | |
287 <element name="1" ftype="vcf" value="G.vcf"/> | |
288 <element name="2" ftype="vcf" value="H.vcf"/> | |
289 </collection> | |
290 </param> | |
291 <param name="genome" value="BSgenome.Hsapiens.UCSC.hg38"/> | |
292 <conditional name="set_levels"> | |
293 <param name="choices" value="yes"/> | |
294 </conditional> | |
295 <param name="levels" value="GH_levels.tab" ftype="tabular"/> | |
296 <conditional name="set_spectrum"> | |
297 <param name="choices" value="yes"/> | |
298 </conditional> | |
299 <conditional name="set_denovo"> | |
300 <param name="choices" value="no"/> | |
301 </conditional> | |
302 <conditional name="set_preset"> | |
303 <param name="choices" value="no"/> | |
304 </conditional> | |
305 <output name="spectrum" file="spectrum_output1.pdf" compare="sim_size"/> | |
306 </test> | |
307 <!-- de novo signatures --> | |
308 <test> | |
309 <param name="vcfs"> | |
310 <collection type="list"> | |
311 <element name="6" value="F.vcf"/> | |
312 <element name="7" value="G.vcf"/> | |
313 <element name="8" value="H.vcf"/> | |
314 <element name="9" value="I.vcf"/> | |
315 </collection> | |
316 </param> | |
317 <param name="genome" value="BSgenome.Hsapiens.UCSC.hg38"/> | |
318 <conditional name="set_spectrum"> | |
319 <param name="choices" value="no"/> | |
320 </conditional> | |
321 <conditional name="set_denovo"> | |
322 <param name="choices" value="yes"/> | |
323 </conditional> | |
324 <conditional name="set_preset"> | |
295 <param name="choices" value="no"/> | 325 <param name="choices" value="no"/> |
296 </conditional> | 326 </conditional> |
297 <param name="nrun" value="10" /> | 327 <param name="nrun" value="10" /> |
298 <param name="rank" value="4" /> | 328 <param name="rank" value="4" /> |
299 <param name="newsignum" value="4" /> | 329 <param name="newsignum" value="4" /> |
305 </tests> | 335 </tests> |
306 <help> | 336 <help> |
307 | 337 |
308 **What it does** | 338 **What it does** |
309 | 339 |
310 Takes as inputs | 340 This tool implement the R package MutationalPatterns to decompose mutations found in cancers |
311 | 341 in a linear combination of elementary mutational signatures, as first described by |
312 * a collection of n vcf files corresponding to n samples. | 342 Alexandrov_ et al (2013) and recently improved in an update_ published in 2020. |
313 * a tabular table describing the correspondance of sample names to levels (tissues, ages, sexes, etc.) | 343 |
314 * the number of cosmic signatures to decompose mutational patterns of samples | 344 .. _Alexandrov: https://www.nature.com/articles/nature12477 |
315 | 345 .. _update: https://www.nature.com/articles/s41586-020-1943-3 |
316 | 346 |
317 This tool returns a pdf file with the visualisation : | 347 Sets of elementary signatures found by analyzing large cohortes of patients are published |
318 | 348 in the COSMIC databases v2_ to v3.2_. You can choose among these COSMIC signature sets to |
319 * the Cosine similarity of samples when decomposed over the 30 signatures of cosmic_ | 349 analyse your own VCFs. |
320 * the absolute contribution of the n most contributing cosmic_ signatures in the samples mutational patterns (to be set by the user, between 2 and 30) | 350 |
321 * the relative contribution of the n most contributing cosmic_ signatures in the samples mutational patterns (to be set by the user, between 2 and 30) | 351 In addition, you can use your own signature sets (or filtered COSMIC signature sets) |
322 * a clustering of the samples with respect to the relative contribution of their cosmic_ signatures | 352 since MutationalPatterns implements a method to extract elementary signatures from |
323 * pie charts of the samples displaying for each sample the relative contribution of the n most contributing cosmic_ signatures to their mutational pattern | 353 user-provided VCFs. |
324 | 354 |
325 .. _cosmic: https://cancer.sanger.ac.uk/cosmic/signatures_v2.tt | 355 **Inputs** |
356 | |
357 * a collection of VCF files with somatic mutations calls from analysis of samples. | |
358 * a tabular table describing the correspondance of sample names to levels of a factor | |
359 (tissues, ages, sexes, etc.) | |
360 | |
361 **Outputs** | |
362 | |
363 This tool returns pdf files with various visualisations of : | |
364 | |
365 * the spectrum of single nucleotide mutation types | |
366 * the absolute contribution of the elementary signatures in the samples | |
367 * the relative contribution of the elementary signatures in the samples | |
368 * an unrooted hierarchical clustering of the reconstructed samples with respect to the relative contribution of elementary signatures | |
369 * the Cosine similarity between true samples and samples reconstructed with elementary signatures | |
370 * pie charts displaying the relative contribution of the n most contributing elementary signatures in the reconstructed sample profiles | |
371 | |
372 .. _v2: https://cancer.sanger.ac.uk/signatures/signatures_v2/ | |
373 .. _v3.2: https://cancer.sanger.ac.uk/signatures/sbs/ | |
326 | 374 |
327 </help> | 375 </help> |
328 <citations> | 376 <citations> |
329 <citation type="doi">10.18129/B9.bioc.MutationalPatterns</citation> | 377 <citation type="doi">10.18129/B9.bioc.MutationalPatterns</citation> |
330 <citation type="doi">10.1186/s13073-018-0539-0</citation> | 378 <citation type="doi">10.1186/s13073-018-0539-0</citation> |
331 <citation type="doi">10.1038/nature12477</citation> | 379 <citation type="doi">10.1038/nature12477</citation> |
380 <citation type="doi">10.1038/s41586-020-1943-3</citation> | |
332 </citations> | 381 </citations> |
333 </tool> | 382 </tool> |