Mercurial > repos > jjohnson > defuse
comparison defuse.xml @ 1:36306d8086fa
Remove defuse dir
author | Jim Johnson <jj@umn.edu> |
---|---|
date | Fri, 16 Sep 2011 12:41:37 -0500 |
parents | |
children | 4245c2b047de |
comparison
equal
deleted
inserted
replaced
0:efddb7a0b3db | 1:36306d8086fa |
---|---|
1 <tool id="defuse" name="DeFuse" version="1.0"> | |
2 <description>identify fusion transcripts</description> | |
3 <requirements> | |
4 <requirement type="binary"></requirement> | |
5 </requirements> | |
6 <command interpreter="perl"> | |
7 scripts/defuse.pl | |
8 -c `cp $defuse_config $config_txt; echo $defuse_config` | |
9 -d `mkdir -p data_dir; ln -s $left_pairendreads data_dir/reads_1.fastq; ln -s $right_pairendreads data_dir/reads_2.fastq; echo data_dir` | |
10 -o output_dir -p 8 | |
11 </command> | |
12 <inputs> | |
13 <param name="left_pairendreads" type="data" format="fastq" label="left part of read pairs" help="The left and right reads pairs must be in the same order, and not have any unpaired reads. (FASTQ interlacer will pair reads and remove the unpaired. FASTQ de-interlacer will separate the result into left and right reads.)"/> | |
14 <param name="right_pairendreads" type="data" format="fastq" label="right part of read pairs" help="In the same order as the left reads"/> | |
15 <conditional name="refGenomeSource"> | |
16 <param name="genomeSource" type="select" label="Will you select a built-in DeFuse Reference Dataset, or supply a configuration from your history" help=""> | |
17 <option value="indexed">Use a built-in DeFuse Reference Dataset</option> | |
18 <option value="history">Use a configuration from your history that specifies the DeFuse Reference Dataset</option> | |
19 </param> | |
20 <when value="indexed"> | |
21 <param name="index" type="select" label="Select a Reference Dataset" help="if your genome of interest is not listed - contact Galaxy team"> | |
22 <options from_file="defuse.loc"> | |
23 <column name="name" index="1"/> | |
24 <column name="value" index="2"/> | |
25 <filter type="sort_by" column="0" /> | |
26 <validator type="no_options" message="No indexes are available" /> | |
27 </options> | |
28 </param> | |
29 <conditional name="defuse_param"> | |
30 <param name="settings" type="select" label="Defuse parameter settings" help=""> | |
31 <option value="preSet">Default settings</option> | |
32 <option value="full">Full parameter list</option> | |
33 </param> | |
34 <when value="preSet" /> | |
35 <when value="full"> | |
36 <param name="max_insert_size" type="integer" value="500" optional="true" label="Bowtie max_insert_size" /> | |
37 <param name="dna_concordant_length" type="integer" value="2000" optional="true" label="Minimum gene fusion range dna_concordant_length" /> | |
38 <param name="discord_read_trim" type="integer" value="50" optional="true" label="Trim length for discordant reads discord_read_trim" help="(split reads are not trimmed)" /> | |
39 <param name="clustering_precision" type="float" value=".95" optional="true" label="Filter clustering_precision"> | |
40 <validator type="in_range" message="Choose a value between .1 and 1.0" min=".1" max="1"/> | |
41 </param> | |
42 <param name="span_count_threshold" type="integer" value="5" optional="true" label="Filter span_count_threshold" /> | |
43 <param name="split_count_threshold" type="integer" value="3" optional="true" label="Filter split_count_threshold" /> | |
44 <param name="percent_identity_threshold" type="float" value=".90" optional="true" label="Filter percent_identity_threshold"> | |
45 <validator type="in_range" message="Choose a value between .1 and 1.0" min=".1" max="1"/> | |
46 </param> | |
47 <param name="max_dist_pos" type="integer" value="600" optional="true" label="Filter max_dist_pos" /> | |
48 <param name="num_dist_genes" type="integer" value="500" optional="true" label="Filter num_dist_genes" /> | |
49 <param name="split_min_anchor" type="integer" value="4" optional="true" label="Filter split_min_anchor" /> | |
50 <param name="max_concordant_ratio" type="float" value="0.1" optional="true" label="Filter max_concordant_ratio"> | |
51 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/> | |
52 </param> | |
53 <param name="splice_bias" type="integer" value="10" optional="true" label="Filter splice_bias" /> | |
54 <param name="probability_threshold" type="float" value="0.50" optional="true" label="Filter probability_threshold"> | |
55 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/> | |
56 </param> | |
57 <param name="covariance_sampling_density" type="float" value="0.01" optional="true" label="covariance_sampling_density"> | |
58 <help>Position density when calculating covariance</help> | |
59 <validator type="in_range" message="Choose a value between 0.0 and 1.0" min="0" max="1"/> | |
60 </param> | |
61 <param name="denovo_assembly" type="select" label="denovo_assembly" help=""> | |
62 <option value="">Use Default</option> | |
63 <option value="no">no</option> | |
64 <option value="yes">yes</option> | |
65 </param> | |
66 <!-- | |
67 <param name="positive_controls" type="data" format="txt" optional=true label="Defuse positive_controls" help=""/> | |
68 --> | |
69 </when> <!-- full --> | |
70 </conditional> <!-- defuse_param --> | |
71 </when> | |
72 <when value="history"> | |
73 <param name="config" type="data" format="txt" label="Defuse Config file" help=""/> | |
74 </when> <!-- history --> | |
75 </conditional> <!-- refGenomeSource --> | |
76 </inputs> | |
77 <configfiles> | |
78 <configfile name="defuse_config"> | |
79 #import ast | |
80 #if $refGenomeSource.genomeSource == "history": | |
81 #include raw $refGenomeSource.config.__str__ | |
82 #else | |
83 #set $ref_dict = dict($ast.literal_eval($refGenomeSource.index.value)) | |
84 # | |
85 # Configuration file for defuse | |
86 # | |
87 # At a minimum, change all values enclused by [] | |
88 # | |
89 # Gene/Transcript id pattern | |
90 gene_id_pattern = #slurp | |
91 #try | |
92 $ref_dict['gene_id_pattern'] | |
93 transcript_id_pattern = #slurp | |
94 #except | |
95 ENSG\d+ | |
96 #end try | |
97 #try | |
98 $ref_dict['transcript_id_pattern'] | |
99 #except | |
100 ENST\d+ | |
101 #end try | |
102 | |
103 # Directory where the defuse code was unpacked | |
104 ## Default location in the tool/defuse directory | |
105 # source_directory = ${__root_dir__}/tools/defuse | |
106 source_directory = #slurp | |
107 #try | |
108 $ref_dict['source_directory'] | |
109 #except | |
110 ${__root_dir__}/tools/defuse | |
111 #end try | |
112 | |
113 # Directory where you want your dataset | |
114 dataset_directory = #slurp | |
115 #try | |
116 $ref_dict['dataset_directory'] | |
117 #except | |
118 /project/db/genomes/Hsapiens/hg19/defuse | |
119 #end try | |
120 | |
121 # Input genome and gene models | |
122 gene_models = #slurp | |
123 #try | |
124 $ref_dict['gene_models'] | |
125 #except | |
126 \$(dataset_directory)/Homo_sapiens.GRCh37.62.gtf | |
127 #end try | |
128 genome_fasta = #slurp | |
129 #try | |
130 $ref_dict['genome_fasta'] | |
131 #except | |
132 \$(dataset_directory)/Homo_sapiens.GRCh37.62.dna.chromosome.fa | |
133 #end try | |
134 | |
135 # Repeat table from ucsc genome browser | |
136 repeats_filename = #slurp | |
137 #try | |
138 $ref_dict['repeats_filename'] | |
139 #except | |
140 \$(dataset_directory)/rmsk.txt | |
141 #end try | |
142 | |
143 # EST info downloaded from ucsc genome browser | |
144 est_fasta = #slurp | |
145 #try | |
146 $ref_dict['est_fasta'] | |
147 #except | |
148 \$(dataset_directory)/est.fa | |
149 #end try | |
150 est_alignments = #slurp | |
151 #try | |
152 $ref_dict['est_alignments'] | |
153 #except | |
154 \$(dataset_directory)/intronEst.txt | |
155 #end try | |
156 | |
157 # Unigene clusters downloaded from ncbi | |
158 unigene_fasta = #slurp | |
159 #try | |
160 $ref_dict['unigene_fasta'] | |
161 #except | |
162 \$(dataset_directory)/Hs.seq.uniq | |
163 #end try | |
164 | |
165 # Paths to external tools | |
166 bowtie_bin = #slurp | |
167 #try | |
168 $ref_dict['bowtie_bin'] | |
169 #except | |
170 /soft/bowtie/0.12.7/bowtie | |
171 #end try | |
172 bowtie_build_bin = #slurp | |
173 #try | |
174 $ref_dict['bowtie_build_bin'] | |
175 #except | |
176 /soft/bowtie/0.12.7/bowtie-build | |
177 #end try | |
178 blat_bin = #slurp | |
179 #try | |
180 $ref_dict['blat_bin'] | |
181 #except | |
182 /soft/blat/34/bin/blat | |
183 #end try | |
184 fatotwobit_bin = #slurp | |
185 #try | |
186 $ref_dict['fatotwobit_bin'] | |
187 #except | |
188 /soft/blat/34/bin/faToTwoBit | |
189 #end try | |
190 r_bin = #slurp | |
191 #try | |
192 $ref_dict['r_bin'] | |
193 #except | |
194 /project/sdml-sles11-weblocal/R-2.12.1/bin/R | |
195 #end try | |
196 rscript_bin = #slurp | |
197 #try | |
198 $ref_dict['rscript_bin'] | |
199 #except | |
200 /project/sdml-sles11-weblocal/R-2.12.1/bin/Rscript | |
201 #end try | |
202 | |
203 #raw | |
204 # Dataset files | |
205 dataset_prefix = $(dataset_directory)/defuse | |
206 chromosome_prefix = $(dataset_prefix).dna.chromosomes | |
207 exons_fasta = $(dataset_prefix).exons.fa | |
208 cds_fasta = $(dataset_prefix).cds.fa | |
209 cdna_regions = $(dataset_prefix).cdna.regions | |
210 cdna_fasta = $(dataset_prefix).cdna.fa | |
211 reference_fasta = $(dataset_prefix).reference.fa | |
212 rrna_fasta = $(dataset_prefix).rrna.fa | |
213 ig_gene_list = $(dataset_prefix).ig.gene.list | |
214 repeats_regions = $(dataset_directory)/repeats.regions | |
215 est_split_fasta1 = $(dataset_directory)/est.1.fa | |
216 est_split_fasta2 = $(dataset_directory)/est.2.fa | |
217 est_split_fasta3 = $(dataset_directory)/est.3.fa | |
218 est_split_fasta4 = $(dataset_directory)/est.4.fa | |
219 est_split_fasta5 = $(dataset_directory)/est.5.fa | |
220 est_split_fasta6 = $(dataset_directory)/est.6.fa | |
221 est_split_fasta7 = $(dataset_directory)/est.7.fa | |
222 est_split_fasta8 = $(dataset_directory)/est.8.fa | |
223 est_split_fasta9 = $(dataset_directory)/est.9.fa | |
224 | |
225 # Fasta files with bowtie indices for prefiltering reads for concordantly mapping pairs | |
226 prefilter1 = $(unigene_fasta) | |
227 | |
228 # deFuse scripts and tools | |
229 scripts_directory = $(source_directory)/scripts | |
230 tools_directory = $(source_directory)/tools | |
231 data_directory = $(source_directory)/data | |
232 #end raw | |
233 | |
234 # Path to samtools, 0.1.8 is compiled for you, use other versions at your own risk | |
235 samtools_bin = #slurp | |
236 #try | |
237 $ref_dict['samtools_bin'] | |
238 #except | |
239 \$(source_directory)/external/samtools-0.1.8/samtools | |
240 #end try | |
241 | |
242 # Bowtie parameters | |
243 bowtie_threads = #slurp | |
244 #try | |
245 $ref_dict['bowtie_threads'] | |
246 #except | |
247 1 | |
248 #end try | |
249 bowtie_quals = #slurp | |
250 #try | |
251 $ref_dict['bowtie_quals'] | |
252 #except | |
253 --phred33-quals | |
254 #end try | |
255 max_insert_size = #slurp | |
256 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.max_insert_size.__str__ != "": | |
257 $refGenomeSource.defuse_param.max_insert_size | |
258 #else | |
259 #try | |
260 $ref_dict['max_insert_size'] | |
261 #except | |
262 500 | |
263 #end try | |
264 #end if | |
265 | |
266 # Parameters for building the dataset | |
267 chromosomes = #slurp | |
268 #try | |
269 $ref_dict.chromosomes | |
270 #except | |
271 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,X,Y,MT | |
272 #end try | |
273 mt_chromosome = #slurp | |
274 #try | |
275 $ref_dict['mt_chromosome'] | |
276 #except | |
277 MT | |
278 #end try | |
279 gene_sources = #slurp | |
280 #try | |
281 $ref_dict['gene_sources'] | |
282 #except | |
283 IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding | |
284 #end try | |
285 ig_gene_sources = #slurp | |
286 #try | |
287 $ref_dict['ig_gene_sources'] | |
288 #except | |
289 IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene | |
290 #end try | |
291 rrna_gene_sources = #slurp | |
292 #try | |
293 $ref_dict['rrna_gene_sources'] | |
294 #except | |
295 Mt_rRNA,rRNA,rRNA_pseudogene | |
296 #end try | |
297 | |
298 # Blat sequences per job | |
299 num_blat_sequences = #slurp | |
300 #try | |
301 $ref_dict['num_blat_sequences'] | |
302 #except | |
303 10000 | |
304 #end try | |
305 | |
306 # Minimum gene fusion range | |
307 dna_concordant_length = #slurp | |
308 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.dna_concordant_length.__str__ != "": | |
309 $refGenomeSource.defuse_param.dna_concordant_length | |
310 #else | |
311 #try | |
312 $ref_dict['dna_concordant_length'] | |
313 #except | |
314 2000 | |
315 #end try | |
316 #end if | |
317 | |
318 # Trim length for discordant reads (split reads are not trimmed) | |
319 discord_read_trim = #slurp | |
320 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.discord_read_trim.__str__ != "": | |
321 $refGenomeSource.defuse_param.discord_read_trim | |
322 #else | |
323 #try | |
324 $ref_dict['discord_read_trim'] | |
325 #except | |
326 50 | |
327 #end try | |
328 #end if | |
329 | |
330 # Filtering parameters | |
331 clustering_precision = #slurp | |
332 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.clustering_precision.__str__ != "" | |
333 $refGenomeSource.defuse_param.clustering_precision | |
334 #else | |
335 #try | |
336 $ref_dict['clustering_precision'] | |
337 #except | |
338 0.95 | |
339 #end try | |
340 #end if | |
341 span_count_threshold = #slurp | |
342 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.span_count_threshold.__str__ != "" | |
343 $refGenomeSource.defuse_param.span_count_threshold | |
344 #else | |
345 #try | |
346 $ref_dict['span_count_threshold'] | |
347 #except | |
348 5 | |
349 #end try | |
350 #end if | |
351 split_count_threshold = #slurp | |
352 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.split_count_threshold.__str__ != "" | |
353 $refGenomeSource.defuse_param.split_count_threshold | |
354 #else | |
355 #try | |
356 $ref_dict['split_count_threshold'] | |
357 #except | |
358 3 | |
359 #end try | |
360 #end if | |
361 percent_identity_threshold = #slurp | |
362 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.percent_identity_threshold.__str__ != "" | |
363 $refGenomeSource.defuse_param.percent_identity_threshold | |
364 #else | |
365 #try | |
366 $ref_dict['percent_identity_threshold'] | |
367 #except | |
368 0.90 | |
369 #end try | |
370 #end if | |
371 max_dist_pos = #slurp | |
372 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.max_dist_pos.__str__ != "" | |
373 $refGenomeSource.defuse_param.max_dist_pos | |
374 #else | |
375 #try | |
376 $ref_dict['max_dist_pos'] | |
377 #except | |
378 600 | |
379 #end try | |
380 #end if | |
381 num_dist_genes = #slurp | |
382 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.num_dist_genes.__str__ != "" | |
383 $refGenomeSource.defuse_param.num_dist_genes | |
384 #else | |
385 #try | |
386 $ref_dict['num_dist_genes'] | |
387 #except | |
388 500 | |
389 #end try | |
390 #end if | |
391 split_min_anchor = #slurp | |
392 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.split_min_anchor.__str__ != "" | |
393 $refGenomeSource.defuse_param.split_min_anchor | |
394 #else | |
395 #try | |
396 $ref_dict['split_min_anchor'] | |
397 #except | |
398 4 | |
399 #end try | |
400 #end if | |
401 max_concordant_ratio = #slurp | |
402 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.max_concordant_ratio.__str__ != "" | |
403 $refGenomeSource.defuse_param.max_concordant_ratio | |
404 #else | |
405 #try | |
406 $ref_dict['max_concordant_ratio'] | |
407 #except | |
408 0.1 | |
409 #end try | |
410 #end if | |
411 splice_bias = #slurp | |
412 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.splice_bias.__str__ != "" | |
413 $refGenomeSource.defuse_param.splice_bias | |
414 #else | |
415 #try | |
416 $ref_dict['splice_bias'] | |
417 #except | |
418 10 | |
419 #end try | |
420 #end if | |
421 denovo_assembly = #slurp | |
422 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.denovo_assembly.__str__ != "" | |
423 $refGenomeSource.defuse_param.denovo_assembly | |
424 #else | |
425 #try | |
426 $ref_dict['denovo_assembly'] | |
427 #except | |
428 no | |
429 #end try | |
430 #end if | |
431 probability_threshold = #slurp | |
432 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.probability_threshold.__str__ != "" | |
433 $refGenomeSource.defuse_param.probability_threshold | |
434 #else | |
435 #try | |
436 $ref_dict['probability_threshold'] | |
437 #except | |
438 0.50 | |
439 #end try | |
440 #end if | |
441 positive_controls = \$(data_directory)/controls.txt | |
442 | |
443 # Position density when calculating covariance | |
444 covariance_sampling_density = #slurp | |
445 #if $refGenomeSource.defuse_param.settings == "full" and $refGenomeSource.defuse_param.covariance_sampling_density.__str__ != "" | |
446 $refGenomeSource.defuse_param.covariance_sampling_density | |
447 #else | |
448 #try | |
449 $ref_dict['covariance_sampling_density'] | |
450 #except | |
451 0.01 | |
452 #end try | |
453 #end if | |
454 | |
455 | |
456 # Number of reads for each job in split | |
457 reads_per_job = 1000000 | |
458 | |
459 # Number of regions for each breakpoint sequence job in split | |
460 regions_per_job = 20 | |
461 | |
462 #raw | |
463 # If you have command line 'mail' and wish to be notified | |
464 # mailto = andrew.mcpherson@gmail.com | |
465 | |
466 # Remove temp files | |
467 remove_job_files = yes | |
468 remove_job_temp_files = yes | |
469 | |
470 # Converting to fastq | |
471 # Fastq converter config format 1 for reads stored in separate files for each end | |
472 # data_lane_rexex_N is a perl regex which stores the lane id in $1 | |
473 # data_end_regex_N is a perl regex which stores the end, 1 or 2, in $1 | |
474 # data_compress_regex_N is a perl regex which stores the compression extension in $1 | |
475 # data_convert_N is the associated conversion utility that takes data at stdin and outputs fastq at stdout | |
476 # Fastq converter config format 2 for reads stored in separate files for each end | |
477 # data_lane_regex_N is a perl regex which stores the lane id in $1 | |
478 # data_compress_regex_N is a perl regex which stores the compression extension in $1 | |
479 # data_end1_converter_N is the associated conversion utility that takes data at stdin and outputs fastq for end 1 at stdout | |
480 # data_end2_converter_N is the associated conversion utility that takes data at stdin and outputs fastq for end 2 at stdout | |
481 | |
482 data_lane_regex_1 = ^(.+)_[12]_export\.txt.*$ | |
483 data_end_regex_1 = ^.+_([12])_export\.txt.*$ | |
484 data_compress_regex_1 = ^.+_[12]_export\.txt(.*)$ | |
485 data_converter_1 = $(scripts_directory)/fq_all2std.pl export2std | |
486 | |
487 data_lane_regex_2 = ^(.+)_[12]_concat_qseq\.txt.*$ | |
488 data_end_regex_2 = ^.+_([12])_concat_qseq\.txt.*$ | |
489 data_compress_regex_2 = ^.+_[12]_concat_qseq\.txt(.*)$ | |
490 data_converter_2 = $(scripts_directory)/qseq2fastq.pl | |
491 | |
492 data_lane_regex_3 = ^(.+)\.bam.*$ | |
493 data_compress_regex_3 = ^.+\.bam(.*)$ | |
494 data_end1_converter_3 = samtools view - | filter_sam_mate.pl 1 | sam_to_fastq.pl | |
495 data_end2_converter_3 = samtools view - | filter_sam_mate.pl 2 | sam_to_fastq.pl | |
496 | |
497 data_lane_regex_4 = ^(.+).[12].fastq.*$ | |
498 data_end_regex_4 = ^.+.([12]).fastq.*$ | |
499 data_compress_regex_4 = ^.+.[12].fastq(.*)$ | |
500 data_converter_4 = cat | |
501 #end raw | |
502 | |
503 #end if | |
504 | |
505 </configfile> | |
506 </configfiles> | |
507 <outputs> | |
508 <data format="txt" name="config_txt" label="${tool.name} on ${on_string}: config.txt"/> | |
509 <data format="txt" name="defuse_log" label="${tool.name} on ${on_string}: defuse.log" from_work_dir="output_dir/log/defuse.log"/> | |
510 <data format="tabular" name="results_tsv" label="${tool.name} on ${on_string}: results.tsv" from_work_dir="output_dir/results.tsv"/> | |
511 <data format="tabular" name="results_filtered_tsv" label="${tool.name} on ${on_string}: results.filtered.tsv" from_work_dir="output_dir/results.filtered.tsv"/> | |
512 <data format="tabular" name="results_classify_tsv" label="${tool.name} on ${on_string}: results.classify.tsv" from_work_dir="output_dir/results.classify.tsv"/> | |
513 </outputs> | |
514 <tests> | |
515 </tests> | |
516 <help> | |
517 **DeFuse** | |
518 | |
519 DeFuse_ is a software package for gene fusion discovery using RNA-Seq data. The software uses clusters of discordant paired end alignments to inform a split read alignment analysis for finding fusion boundaries. The software also employs a number of heuristic filters in an attempt to reduce the number of false positives and produces a fully annotated output for each predicted fusion. | |
520 | |
521 Journal reference: http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1001138 | |
522 | |
523 .. _DeFuse: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=Main_Page | |
524 | |
525 ------ | |
526 | |
527 **Inputs** | |
528 | |
529 DeFuse requires 2 fastq files for paried reads, one with the left mate of the paired reads, and a second fastq with the the right mate of the paired reads (**with reads in the same order as in the first fastq dataset**). | |
530 | |
531 If your fastq files have reads in different orders or include unpaired reads, you can preprocess them with **FASTQ interlacer** to create a single interlaced fastq dataset with only the paired reads and input that to **FASTQ de-interlacer** to separate the reads into a left fastq and right fastq. | |
532 | |
533 DeFuse uses a Reference Dataset to search for gene fusions. The Reference Dataset is generated from the following sources in DeFuse_Version_0.4_: | |
534 - genome_fasta from Ensembl | |
535 - gene_models from Ensembl | |
536 - repeats_filename from UCSC RepeatMasker rmsk.txt | |
537 - est_fasta from UCSC | |
538 - est_alignments from UCSC intronEst.txt | |
539 - unigene_fasta from NCBI | |
540 | |
541 .. _DeFuse_Version_0.4: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=DeFuse_Version_0.4.2 | |
542 | |
543 ------ | |
544 | |
545 **Outputs** | |
546 | |
547 The galaxy history will contain 5 outputs: the config.txt file that provides DeFuse with its parameters, the defuse.log which details what DeFuse has done and can be useful in determining any errors, and the 3 results files that defuse generates. | |
548 | |
549 DeFuse generates 3 results files: results.txt, results.filtered.txt, and results.classify.txt. All three files have the same format, though results.classify.txt has a probability column from the application of the classifier to results.txt, and results.filtered.txt has been filtered according to the threshold probability as set in config.txt. | |
550 | |
551 The file format is tab delimited with one prediction per line, and the following fields per prediction (not necessarily in this order): | |
552 | |
553 - **Identification** | |
554 - cluster_id : random identifier assigned to each prediction | |
555 - library_name : library name given on the command line of defuse | |
556 - gene1 : ensembl id of gene 1 | |
557 - gene2 : ensembl id of gene 2 | |
558 - gene_name1 : name of gene 1 | |
559 - gene_name2 : name of gene 2 | |
560 - **Evidence** | |
561 - break_predict : breakpoint prediction method, denovo or splitr, that is considered most reliable | |
562 - concordant_ratio : proportion of spanning reads considered concordant by blat | |
563 - denovo_min_count : minimum kmer count across denovo assembled sequence | |
564 - denovo_sequence : fusion sequence predicted by debruijn based denovo sequence assembly | |
565 - denovo_span_pvalue : p-value, lower values are evidence the prediction is a false positive | |
566 - gene_align_strand1 : alignment strand for spanning read alignments to gene 1 | |
567 - gene_align_strand2 : alignment strand for spanning read alignments to gene 2 | |
568 - min_map_count : minimum of the number of genomic mappings for each spanning read | |
569 - max_map_count : maximum of the number of genomic mappings for each spanning read | |
570 - mean_map_count : average of the number of genomic mappings for each spanning read | |
571 - num_multi_map : number of spanning reads that map to more than one genomic location | |
572 - span_count : number of spanning reads supporting the fusion | |
573 - span_coverage1 : coverage of spanning reads aligned to gene 1 as a proportion of expected coverage | |
574 - span_coverage2 : coverage of spanning reads aligned to gene 2 as a proportion of expected coverage | |
575 - span_coverage_min : minimum of span_coverage1 and span_coverage2 | |
576 - span_coverage_max : maximum of span_coverage1 and span_coverage2 | |
577 - splitr_count : number of split reads supporting the prediction | |
578 - splitr_min_pvalue : p-value, lower values are evidence the prediction is a false positive | |
579 - splitr_pos_pvalue : p-value, lower values are evidence the prediction is a false positive | |
580 - splitr_sequence : fusion sequence predicted by split reads | |
581 - splitr_span_pvalue : p-value, lower values are evidence the prediction is a false positive | |
582 - **Annotation** | |
583 - adjacent : fusion between adjacent genes | |
584 - altsplice : fusion likely the product of alternative splicing between adjacent genes | |
585 - break_adj_entropy1 : di-nucleotide entropy of the 40 nucleotides adjacent to the fusion splice in gene 1 | |
586 - break_adj_entropy2 : di-nucleotide entropy of the 40 nucleotides adjacent to the fusion splice in gene 2 | |
587 - break_adj_entropy_min : minimum of break_adj_entropy1 and break_adj_entropy2 | |
588 - breakpoint_homology : number of nucleotides at the fusion splice that align equally well to gene 1 or gene 2 | |
589 - breakseqs_estislands_percident : maximum percent identity of fusion sequence alignments to est islands | |
590 - cdna_breakseqs_percident : maximum percent identity of fusion sequence alignments to cdna | |
591 - deletion : fusion produced by a genomic deletion | |
592 - est_breakseqs_percident : maximum percent identity of fusion sequence alignments to est | |
593 - eversion : fusion produced by a genomic eversion | |
594 - exonboundaries : fusion splice at exon boundaries | |
595 - expression1 : expression of gene 1 as number of concordant pairs aligned to exons | |
596 - expression2 : expression of gene 2 as number of concordant pairs aligned to exons | |
597 - gene_chromosome1 : chromosome of gene 1 | |
598 - gene_chromosome2 : chromosome of gene 2 | |
599 - gene_end1 : end position for gene 1 | |
600 - gene_end2 : end position for gene 2 | |
601 - gene_location1 : location of breakpoint in gene 1 | |
602 - gene_location2 : location of breakpoint in gene 2 | |
603 - gene_start1 : start of gene 1 | |
604 - gene_start2 : start of gene 2 | |
605 - gene_strand1 : strand of gene 1 | |
606 - gene_strand2 : strand of gene 2 | |
607 - genome_breakseqs_percident : maximum percent identity of fusion sequence alignments to genome | |
608 - genomic_break_pos1 : genomic position in gene 1 of fusion splice / breakpoint | |
609 - genomic_break_pos2 : genomic position in gene 2 of fusion splice / breakpoint | |
610 - genomic_strand1 : genomic strand in gene 1 of fusion splice / breakpoint, retained sequence upstream on this strand, breakpoint is downstream | |
611 - genomic_strand2 : genomic strand in gene 2 of fusion splice / breakpoint, retained sequence upstream on this strand, breakpoint is downstream | |
612 - interchromosomal : fusion produced by an interchromosomal translocation | |
613 - interrupted_index1 : ratio of coverage before and after the fusion splice / breakpoint in gene 1 | |
614 - interrupted_index2 : ratio of coverage before and after the fusion splice / breakpoint in gene 2 | |
615 - inversion : fusion produced by genomic inversion | |
616 - orf : fusion combines genes in a way that preserves a reading frame | |
617 - probability : probability produced by classification using adaboost and example positives/negatives (only given in results.classified.txt) | |
618 - read_through : fusion involving adjacent potentially resulting from co-transcription rather than genome rearrangement | |
619 - repeat_proportion1 : proportion of the spanning reads in gene 1 that span a repeat region | |
620 - repeat_proportion2 : proportion of the spanning reads in gene 2 that span a repeat region | |
621 - max_repeat_proportion : max of repeat_proportion1 and repeat_proportion2 | |
622 - splice_score : number of nucleotides similar to GTAG at fusion splice | |
623 - num_splice_variants : number of potential splice variants for this gene pair | |
624 - splicing_index1 : number of concordant pairs in gene 1 spanning the fusion splice / breakpoint, divided by number of spanning reads supporting the fusion with gene 2 | |
625 - splicing_index2 : number of concordant pairs in gene 2 spanning the fusion splice / breakpoint, divided by number of spanning reads supporting the fusion with gene 1 | |
626 | |
627 | |
628 **Example** | |
629 | |
630 results.tsv:: | |
631 | |
632 cluster_id splitr_sequence splitr_count splitr_span_pvalue splitr_pos_pvalue splitr_min_pvalue adjacent altsplice break_adj_entropy1 break_adj_entropy2 break_adj_entropy_min break_predict breakpoint_homology breakseqs_estislands_percident cdna_breakseqs_percident concordant_ratio deletion est_breakseqs_percident eversion exonboundaries expression1 expression2 gene1 gene2 gene_align_strand1 gene_align_strand2 gene_chromosome1 gene_chromosome2 gene_end1 gene_end2 gene_location1 gene_location2 gene_name1 gene_name2 gene_start1 gene_start2 gene_strand1 gene_strand2 genome_breakseqs_percident genomic_break_pos1 genomic_break_pos2 genomic_strand1 genomic_strand2 interchromosomal interrupted_index1 interrupted_index2 inversion library_name max_map_count max_repeat_proportion mean_map_count min_map_count num_multi_map num_splice_variants orf read_through repeat_proportion1 repeat_proportion2 span_count span_coverage1 span_coverage2 span_coverage_max span_coverage_min splice_score splicing_index1 splicing_index2 | |
633 1169 GCTTACTGTATGCCAGGCCCCAGAGGGGCAACCACCCTCTAAAGAGAGCGGCTCCTGCCTCCCAGAAAGCTCACAGACTGTGGGAGGGAAACAGGCAGCAGGTGAAGATGCCAAATGCCAGGATATCTGCCCTGTCCTTGCTTGATGCAGCTGCTGGCTCCCACGTTCTCCCCAGAATCCCCTCACACTCCTGCTGTTTTCTCTGCAGGTTGGCAGAGCCCCATGAGGGCAGGGCAGCCACTTTGTTCTTGGGCGGCAAACCTCCCTGGGCGGCACGGAAACCACGGTGAGAAGGGGGCAGGTCGGGCACGTGCAGGGACCACGCTGCAGG|TGTACCCAACAGCTCCGAAGAGACAGCGACCATCGAGAACGGGCCATGATGACGATGGCGGTTTTGTCGAAAAGAAAAGGGGGAAATGTGGGGAAAAGCAAGAGAGATCAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGAGATTCGGTGACCCCACCCCCAACCCCGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTGAATGGATTAAGGGCGGTGCGAGACGTGCTTT 2 0.000436307890680442 0.110748295953850 0.0880671602973091 N Y 3.19872427442695 3.48337348351473 3.19872427442695 splitr 0 0 0 0 Y 0 N N 0 0 ENSG00000105549 ENSG00000213753 + - 19 19 376013 59111168 intron upstream THEG AC016629.2 361750 59084870 - + 0 375099 386594 + - N 8.34107429512245 - N output_dir 82 0.677852348993289 40.6666666666667 1 11 1 N N 0.361271676300578 0.677852348993289 12 0.758602776578432 0.569678713445872 0.758602776578432 0.569678713445872 2 0.416666666666667 - | |
634 3596 TGGGGGTTGAGGCTTCTGTTCCCAGGTTCCATGACCTCAGAGGTGGCTGGTGAGGTTATGACCTTTGCCCTCCAGCCCTGGCTTAAAACCTCAGCCCTAGGACCTGGTTAAAGGAAGGGGAGATGGAGCTTTGCCCCGACCCCCCCCCGTTCCCCTCACCTGTCAGCCCGAGCTGGGCCAGGGCCCCTAGGTGGGGAACTGGGCCGGGGGGCGGGCACAAGCGGAGGTGGTGCCCCCAAAAGGGCTCCCGGTGGGGTCTTGCTGAGAAGGTGAGGGGTTCCCGGGGCCGCAGCAGGTGGTGGTGGAGGAGCCAAGCGGCTGTAGAGCAAGGGGTGAGCAGGTTCCAGACCGTAGAGGCGGGCAGCGGCCACGGCCCCGGGTCCAGTTAGCTCCTCACCCGCCTCATAGAAGCGGGGTGGCCTTGCCAGGCGTGGGGGTGCTGCC|TTCCTTGGATGTGGTAGCCGTTTCTCAGGCTCCCTCTCCGGAATCGAACCCTGATTCCCCGTCACCCGTGGTCACCATGGTAGGCACGGCGACTACCATCGAAAGTTGATAGGGCAGACGTTCGAATGGGTCGTCGCCGCCACGGGGGGCGTGCGATCAGCCCGAGGTTATCTAGAGTCACCAAAGCCGCCGGCGCCCGCCCCCCGGCCGGGGCCGGAGAGGGGCTGACCGGGTTGGTTTTGATCTGATAAATGCACGCATCCCCCCCGCGAAGGGGGTCAGCGCCCGTCGGCATGTATTAGCTCTAGAATTACCACAGTTATCCAAGTAGGAGAGGAGCGAGCGACCAAAGGAACCATAACTGATTTAATGAGCCATTCGCAGTTTCACTGTACCGGCCGTGCGTACTTAGACATGCATGGCTTAATCTTTGAGACAAGCATATGCTACTGGCAGG 250 7.00711162298275e-72 0.00912124762512338 0.00684237452309549 N N 3.31745197152461 3.47233119514066 3.31745197152461 splitr 7 0.0157657657657656 0 0 N 0.0135135135135136 N N 0 0 ENSG00000156860 ENSG00000212932 - + 16 21 30682131 48111157 coding upstream FBRS RPL23AP4 30670289 48110676 + + 0.0157657657657656 30680678 9827473 - + Y - - N output_dir 2 1 1.11111111111111 1 1 1 N N 0 1 9 0.325530693397641 0.296465452915709 0.325530693397641 0.296465452915709 2 - - | |
635 | |
636 </help> | |
637 </tool> |