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author | jjohnson |
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date | Tue, 12 Dec 2017 10:01:42 -0500 |
parents | b22f8634ff84 |
children | b67c24d902aa |
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<tool id="create_defuse_reference" name="Create DeFuse Reference" version="@DEFUSE_VERSION@.1"> <description>create a defuse reference from Ensembl and UCSC sources</description> <macros> <import>macros.xml</import> </macros> <requirements> <expand macro="defuse_requirement" /> <expand macro="mapping_requirements" /> </requirements> <command interpreter="command"> /bin/bash $defuse_script </command> <inputs> <conditional name="genome"> <param name="choice" type="select" label="Select a Genome Build"> <option value="GRCh38">Homo_sapiens GRCh38 hg38</option> <option value="GRCh37">Homo_sapiens GRCh37 hg19</option> <option value="NCBI36">Homo_sapiens NCBI36 hg18</option> <option value="GRCm38">Mus_musculus GRCm38 mm10</option> <option value="NCBIM37">Mus_musculus NCBIM37 mm9</option> <option value="Rnor_5.0">Rattus_norvegicus Rnor_5.0 rn5</option> <option value="user_specified">User specified</option> </param> <when value="GRCh38"> <param name="ensembl_organism" type="hidden" value="homo_sapiens"/> <param name="ensembl_prefix" type="hidden" value="Homo_sapiens"/> <param name="ensembl_genome_version" type="hidden" value="GRCh38"/> <param name="ensembl_version" type="hidden" value="80"/> <param name="ncbi_organism" type="hidden" value="Homo_sapiens"/> <param name="ncbi_prefix" type="hidden" value="Hs"/> <param name="ucsc_genome_version" type="hidden" value="hg38"/> <param name="chromosomes" type="hidden" value="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"/> <param name="mt_chromosome" type="hidden" value="MT"/> <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/> <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/> <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/> </when> <when value="GRCh37"> <param name="ensembl_organism" type="hidden" value="homo_sapiens"/> <param name="ensembl_prefix" type="hidden" value="Homo_sapiens"/> <param name="ensembl_genome_version" type="hidden" value="GRCh37"/> <param name="ensembl_version" type="hidden" value="71"/> <param name="ncbi_organism" type="hidden" value="Homo_sapiens"/> <param name="ncbi_prefix" type="hidden" value="Hs"/> <param name="ucsc_genome_version" type="hidden" value="hg19"/> <param name="chromosomes" type="hidden" value="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"/> <param name="mt_chromosome" type="hidden" value="MT"/> <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/> <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/> <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/> </when> <when value="NCBI36"> <param name="ensembl_organism" type="hidden" value="homo_sapiens"/> <param name="ensembl_prefix" type="hidden" value="Homo_sapiens"/> <param name="ensembl_genome_version" type="hidden" value="NCBI36"/> <param name="ensembl_version" type="hidden" value="54"/> <param name="ncbi_organism" type="hidden" value="Homo_sapiens"/> <param name="ncbi_prefix" type="hidden" value="Hs"/> <param name="ucsc_genome_version" type="hidden" value="hg18"/> <param name="chromosomes" type="hidden" value="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"/> <param name="mt_chromosome" type="hidden" value="MT"/> <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/> <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/> <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/> </when> <when value="GRCm38"> <param name="ensembl_organism" type="hidden" value="mus_musculus"/> <param name="ensembl_prefix" type="hidden" value="Mus_musculus"/> <param name="ensembl_genome_version" type="hidden" value="GRCm38"/> <param name="ensembl_version" type="hidden" value="71"/> <param name="ncbi_organism" type="hidden" value="Mus_musculus"/> <param name="ncbi_prefix" type="hidden" value="Mm"/> <param name="ucsc_genome_version" type="hidden" value="mm10"/> <param name="chromosomes" type="hidden" value="1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,X,Y,MT"/> <param name="mt_chromosome" type="hidden" value="MT"/> <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/> <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/> <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/> </when> <when value="NCBIM37"> <param name="ensembl_organism" type="hidden" value="mus_musculus"/> <param name="ensembl_prefix" type="hidden" value="Mus_musculus"/> <param name="ensembl_genome_version" type="hidden" value="NCBIM37"/> <param name="ensembl_version" type="hidden" value="67"/> <param name="ncbi_organism" type="hidden" value="Mus_musculus"/> <param name="ncbi_prefix" type="hidden" value="Mm"/> <param name="ucsc_genome_version" type="hidden" value="mm9"/> <param name="chromosomes" type="hidden" value="1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,X,Y,MT"/> <param name="mt_chromosome" type="hidden" value="MT"/> <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/> <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/> <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/> </when> <when value="Rnor_5.0"> <param name="ensembl_organism" type="hidden" value="rattus_norvegicus"/> <param name="ensembl_prefix" type="hidden" value="Rattus_norvegicus"/> <param name="ensembl_genome_version" type="hidden" value="Rnor_5.0"/> <param name="ensembl_version" type="hidden" value="71"/> <param name="ncbi_organism" type="hidden" value="Rattus_norvegicus"/> <param name="ncbi_prefix" type="hidden" value="Rn"/> <param name="ucsc_genome_version" type="hidden" value="rn5"/> <param name="chromosomes" type="hidden" value="1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,X,MT"/> <param name="mt_chromosome" type="hidden" value="MT"/> <param name="gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding"/> <param name="ig_gene_sources" type="hidden" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene"/> <param name="rrna_gene_sources" type="hidden" value="Mt_rRNA,rRNA,rRNA_pseudogene"/> </when> <when value="user_specified"> <param name="ensembl_organism" type="text" value="" label="Ensembl Organism Name"> <help> Examples: homo_sapiens, mus_musculus, rattus_norvegicus ftp://ftp.ensembl.org/pub/release-$ensembl_version/fasta/$ensembl_organism/dna/$ensembl_prefix.$ensembl_genome_version.$ensembl_version.dna.chromosome.$chromosome.fa.gz </help> </param> <param name="ensembl_prefix" type="text" value="" label="Ensembl Organism prefix" help="Examples: Homo_sapiens, Mus_musculus, Rattus_norvegicus"/> <param name="ensembl_genome_version" type="text" value="" label="Ensembl Genome Version" help="Examples: GRCh37, GRCm38, Rnor_5.0"/> <param name="ensembl_version" type="integer" value="" label="Ensembl Release Version" help="Example: 71"/> <param name="ncbi_organism" type="text" value="" label="NCBI Organism Name" help="Examples: Homo_sapiens, Mus_musculus, Rattus_norvegicus"/> <param name="ncbi_prefix" type="text" value="" label="NCBI Organism Unigene prefix" help="Examples: Hs, Mm, Rn"/> <param name="ucsc_genome_version" type="text" value="" label="UCSC Genome Version" help="Examples: hg19, mm10, rn5"/> <param name="chromosomes" type="text" value="" label="Chromosomes for Ensembl genome build" > <help> Examples: Homo_sapiens: 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,X,Y,MT Mus_musculus: 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,X,Y,MT Rattus_norvegicus: 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,X,MT ( ftp://ftp.ensembl.org/pub/release-71/fasta/homo_sapiens/dna/ ) </help> </param> <param name="mt_chromosome" type="text" value="MT" label="Ensembl Mitochonrial Chromosome name" /> <param name="gene_sources" type="text" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,processed_transcript,protein_coding" label="Gene sources" /> <param name="ig_gene_sources" type="text" value="IG_C_gene,IG_D_gene,IG_J_gene,IG_V_gene,IG_pseudogene" label="IG Gene sources" /> <param name="rrna_gene_sources" type="text" value="Mt_rRNA,rRNA,rRNA_pseudogene" label="Ribosomal Gene sources" /> </when> </conditional> </inputs> <outputs> <data format="defuse.conf" name="config_txt" label="${tool.name} on ${genome.ensembl_genome_version} : config.txt"/> </outputs> <stdio> <exit_code range="1:" level="fatal" description="Error running Create DeFuse Reference" /> <regex match="Error:" source="both" level="fatal" description="Error running Create DeFuse Reference" /> </stdio> <configfiles> <configfile name="defuse_config"> # # Configuration file for defuse # # Variables that desiganate the PATH to an application, e.g. __SAMTOOLS_BIN__ # will be set by the runtime script using the ENV PATH # # Directory where the defuse code was unpacked source_directory = __DEFUSE_PATH__ # Organism IDs ensembl_organism = $genome.ensembl_organism ensembl_prefix = $genome.ensembl_prefix ensembl_version = $genome.ensembl_version ensembl_genome_version = $genome.ensembl_genome_version ucsc_genome_version = $genome.ucsc_genome_version ncbi_organism = $genome.ncbi_organism ncbi_prefix = $genome.ncbi_prefix # Directory where you want your dataset dataset_directory = $config_txt.dataset.extra_files_path #raw # Input genome and gene models gene_models = $(dataset_directory)/$(ensembl_prefix).$(ensembl_genome_version).$(ensembl_version).gtf genome_fasta = $(dataset_directory)/$(ensembl_prefix).$(ensembl_genome_version).$(ensembl_version).dna.chromosomes.fa # Repeat table from ucsc genome browser repeats_filename = $(dataset_directory)/repeats.txt # EST info downloaded from ucsc genome browser est_fasta = $(dataset_directory)/est.fa est_alignments = $(dataset_directory)/intronEst.txt # Unigene clusters downloaded from ncbi unigene_fasta = $(dataset_directory)/$(ncbi_prefix).seq.uniq #end raw # Paths to external tools samtools_bin = __SAMTOOLS_BIN__ bowtie_bin = __BOWTIE_BIN__ bowtie_build_bin = __BOWTIE_BUILD_BIN__ blat_bin = __BLAT_BIN__ fatotwobit_bin = __FATOTWOBIT_BIN__ gmap_bin = __GMAP_BIN__ gmap_setup_bin = __GMAP_SETUP_BIN__ r_bin = __R_BIN__ rscript_bin = __RSCRIPT_BIN__ #raw # Directory where you want your dataset gmap_index_directory = $(dataset_directory)/gmap #end raw #raw # Dataset files dataset_prefix = $(dataset_directory)/defuse chromosome_prefix = $(dataset_prefix).dna.chromosomes exons_fasta = $(dataset_prefix).exons.fa cds_fasta = $(dataset_prefix).cds.fa cdna_regions = $(dataset_prefix).cdna.regions cdna_fasta = $(dataset_prefix).cdna.fa reference_fasta = $(dataset_prefix).reference.fa rrna_fasta = $(dataset_prefix).rrna.fa ig_gene_list = $(dataset_prefix).ig.gene.list repeats_regions = $(dataset_directory)/repeats.regions est_split_fasta1 = $(dataset_directory)/est.1.fa est_split_fasta2 = $(dataset_directory)/est.2.fa est_split_fasta3 = $(dataset_directory)/est.3.fa est_split_fasta4 = $(dataset_directory)/est.4.fa est_split_fasta5 = $(dataset_directory)/est.5.fa est_split_fasta6 = $(dataset_directory)/est.6.fa est_split_fasta7 = $(dataset_directory)/est.7.fa est_split_fasta8 = $(dataset_directory)/est.8.fa est_split_fasta9 = $(dataset_directory)/est.9.fa # Fasta files with bowtie indices for prefiltering reads for concordantly mapping pairs prefilter1 = $(unigene_fasta) # deFuse scripts and tools scripts_directory = $(source_directory)/scripts tools_directory = $(source_directory)/tools data_directory = $(source_directory)/data #end raw # Parameters for building the dataset chromosomes = $genome.chromosomes mt_chromosome = $genome.mt_chromosome gene_sources = $genome.gene_sources ig_gene_sources = $genome.ig_gene_sources rrna_gene_sources = $genome.rrna_gene_sources gene_biotypes = $genome.gene_sources ig_gene_biotypes = $genome.ig_gene_sources rrna_gene_biotypes = $genome.rrna_gene_sources #raw # Remove temp files remove_job_files = yes remove_job_temp_files = yes #end raw </configfile> <configfile name="defuse_script"> #!/bin/bash ## define some things for cheetah proccessing #set $amp = chr(38) #set $gt = chr(62) ## substitute pathnames into config file if `grep __DEFUSE_PATH__ $defuse_config ${gt} /dev/null`;then sed -i'.tmp' "s#__DEFUSE_PATH__#\${DEFUSE_PATH}#" $defuse_config; fi if `grep __SAMTOOLS_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} SAMTOOLS_BIN=`which samtools`;then sed -i'.tmp' "s#__SAMTOOLS_BIN__#\${SAMTOOLS_BIN}#" $defuse_config; fi if `grep __BOWTIE_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} BOWTIE_BIN=`which bowtie`;then sed -i'.tmp' "s#__BOWTIE_BIN__#\${BOWTIE_BIN}#" $defuse_config; fi if `grep __BOWTIE_BUILD_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} BOWTIE_BUILD_BIN=`which bowtie-build`;then sed -i'.tmp' "s#__BOWTIE_BUILD_BIN__#\${BOWTIE_BUILD_BIN}#" $defuse_config; fi if `grep __BLAT_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} BLAT_BIN=`which blat`;then sed -i'.tmp' "s#__BLAT_BIN__#\${BLAT_BIN}#" $defuse_config; fi if `grep __FATOTWOBIT_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} FATOTWOBIT_BIN=`which faToTwoBit`;then sed -i'.tmp' "s#__FATOTWOBIT_BIN__#\${FATOTWOBIT_BIN}#" $defuse_config; fi if `grep __GMAP_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} GMAP_BIN=`which gmap`;then sed -i'.tmp' "s#__GMAP_BIN__#\${GMAP_BIN}#" $defuse_config; fi if `grep __GMAP_SETUP_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} GMAP_SETUP_BIN=`which gmap_setup`;then sed -i'.tmp' "s#__GMAP_SETUP_BIN__#\${GMAP_SETUP_BIN}#" $defuse_config; fi if `grep __GMAP_INDEX_DIR__ $defuse_config ${gt} /dev/null` ${amp}${amp} GMAP_INDEX_DIR=`pwd`/gmap;then sed -i'.tmp' "s#__GMAP_INDEX_DIR__#\${GMAP_INDEX_DIR}#" $defuse_config; fi if `grep __R_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} R_BIN=`which R`;then sed -i'.tmp' "s#__R_BIN__#\${R_BIN}#" $defuse_config; fi if `grep __RSCRIPT_BIN__ $defuse_config ${gt} /dev/null` ${amp}${amp} RSCRIPT_BIN=`which Rscript`;then sed -i'.tmp' "s#__RSCRIPT_BIN__#\${RSCRIPT_BIN}#" $defuse_config; fi ## copy config to output cp $defuse_config $config_txt ## make a data_dir and ln -s the input fastq mkdir -p $config_txt.dataset.extra_files_path ## create_reference_dataset.pl perl \${DEFUSE_PATH}/scripts/create_reference_dataset.pl -c $defuse_config </configfile> </configfiles> <tests> </tests> <help> **DeFuse** 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. See the DeFuse_Version_0.6_ manual for details. DeFuse uses a Reference Dataset to search for gene fusions. The Reference Dataset is generated from the following sources in DeFuse_Version_0.6_: - genome_fasta from Ensembl - gene_models from Ensembl - repeats_filename from UCSC RepeatMasker rmsk.txt - est_fasta from UCSC - est_alignments from UCSC intronEst.txt - unigene_fasta from NCBI The create_defuse_reference Galaxy tool downloads the reference genome and other source files, and builds any derivative files including bowtie indices, gmap indices, and 2bit files. Expect this step to take at least 12 hours. It will generate a config.txt file that can be input into the deFuse Galaxy tool. Journal reference: http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1001138 .. _DeFuse: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=Main_Page .. _DeFuse_Version_0.6: http://sourceforge.net/apps/mediawiki/defuse/index.php?title=DeFuse_Version_0.6.1 ------ **Outputs** The galaxy history will contain: the config.txt file that provides DeFuse with the reference data paths. </help> <expand macro="citations"/> </tool>