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author | elixir-it |
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date | Wed, 02 Oct 2019 04:39:04 -0400 |
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<tool id="mutect2" name="MuTect2" version="3.8"> <description>somatic SNP and indel caller</description> <macros> <import>mutect2_macros_add_loc.xml</import> </macros> <requirements> <requirement type="package" version="3.8" >gatk</requirement> <requirement type="package" version="2.7.1" >picard</requirement> <requirement type="package" version="1.7" >samtools</requirement> </requirements> <command> <![CDATA[ ##creation of .bai the -@ option is used to allocate additional threads samtools index -@ \${GALAXY_SLOTS:-4} $input1 && samtools index -@ \${GALAXY_SLOTS:-4} $input2 && ## TODO creation of symlinks because mutect2 want the extensions of the file ln -s $input1 tumor.bam && ln -s $input2 normal.bam && ln -s $input1".bai" tumor.bam.bai && ln -s $input2".bai" normal.bam.bai && #if $reference_source.reference_source_selector == "history" ln -s $reference_source.ref_file_h genome.fa && ln -s $reference_source.ref_file_h".fai" genome.fa.fai && #end if #if $list ln -s $list position.bed && #end if #if $dbSNP ln -s $dbSNP dbSNP.vcf && #end if #if $cosmic ln -s $cosmic cosmic.vcf && #end if #if $alleles ln -s $alleles alleles.vcf #end if ##TODO creation of .dict file of the genome required by mutect2 to run #if $reference_source.reference_source_selector == "history" java -jar \$CONDA_PREFIX/share/picard-2.7.1-2/picard.jar CreateSequenceDictionary R= genome.fa O= genome.dict 2>$log && #end if ##TODO gatk mv_untar_gatk take the GenomeAnalysisTK-3.8-0-ge9d806836.tar.bz2 unzip it ##and move .jar and command is runned bash $__tool_directory__/mv_untar_gatk.sh &> $log && java -jar \$CONDA_PREFIX/../../GenomeAnalysisTK.jar -nct 4 -T MuTect2 -I:tumor tumor.bam -I:normal normal.bam -o $output #if $reference_source.reference_source_selector == "history" -R genome.fa #end if #if $reference_source.reference_source_selector == "cached" -R $reference_source.ref_file.fields.path #end if ## TODO advanced inputs section if the optional inputs are present their options are added to the command #if $dbSNP --dbsnp dbSNP.vcf #end if #if $cosmic --cosmic cosmic.vcf #end if #if $list -L position.bed #end if #if $alleles --alleles alleles.vcf #end if ##TODO advanced options section if the options inputs are different from the default value the option is added to the command #if str($advanced.advanced_parameters) =="show": #if $advanced.heterozygosity != "0.001" --heterozygosity $advanced.heterozygosity #end if #if $advanced.heterozygosity_stdev != "0.01" --heterozygosity_stdev $advanced.heterozygosity_stdev #end if #if $advanced.indel_heterozygosity != "1.25E-4" --indel_heterozygosity $advanced.indel_heterozygosity #end if #if $advanced.initial_normal_lod != "0.5" --initial_normal_lod $advanced.initial_normal_lod #end if #if $advanced.initial_tumor_lod != "4.0" --initial_tumor_lod $advanced.initial_tumor_lod #end if #if $advanced.max_alt_allele_in_normal_fraction != "0.03" --max_alt_allele_in_normal_fraction $advanced.max_alt_allele_in_normal_fraction #end if #if $advanced.max_alt_alleles_in_normal_count != "1" --max_alt_alleles_in_normal_count $advanced.max_alt_alleles_in_normal_count #end if #if $advanced.max_alt_alleles_in_normal_qscore_sum != "20" --max_alt_alleles_in_normal_qscore_sum $advanced.max_alt_alleles_in_normal_qscore_sum #end if #if $advanced.maxReadsInRegionPerSample != "1000" --maxReadsInRegionPerSample $advanced.maxReadsInRegionPerSample #end if #if $advanced.min_base_quality_score != "10" --min_base_quality_score $advanced.min_base_quality_score #end if #if $advanced.minReadsPerAlignmentStart != "5" --minReadsPerAlignmentStart $advanced.minReadsPerAlignmentStart #end if #if $advanced.normal_lod != "2.2" --normal_lod $advanced.normal_lod #end if #if $advanced.pir_mad_threshold != "3.0" --pir_mad_threshold $advanced.pir_mad_threshold #end if #if $advanced.pir_median_threshold != "10.0" --pir_median_threshold $advanced.pir_median_threshold #end if #if $advanced.power_constant_qscore != "30" --power_constant_qscore $advanced.power_constant_qscore #end if #if $advanced.sample_ploidy != "2" --sample_ploidy $advanced.sample_ploidy #end if #if $advanced.standard_min_confidence_threshold_for_calling != "10.0" --standard_min_confidence_threshold_for_calling $advanced.standard_min_confidence_threshold_for_calling #end if #if $advanced.tumor_lod != "6.3" --tumor_lod $advanced.tumor_lod #end if #if $advanced.contamination_fraction_to_filter != "0.0" --contamination_fraction_to_filter $contamination_fraction_to_filter #end if #if $advanced.dbsnp_normal_lod != "5.5" --dbsnp_normal_lod $dbsnp_normal_lod #end if #if $advanced.debug_read_name != "" --debug_read_name $debug_read_name #end if #if $advanced.genotyping_mode != "DISCOVERY" --genotyping_mode $genotyping_mode #end if #if $advanced.group --group $advanced.group #end if #end if ##TODO output section --> if the option string == "yes" the optional output is added #if str($optional_out1.outFile1) =="yes" --activeRegionOut $activeRegionOut_output #end if #if str($optional_out2.outFile2) =="yes" --activityProfileOut $activityProfileOut_output #end if #if str($optional_out3.outFile3) =="yes" --graphOutput $graphOutput_output #end if #if str($optional_out4.outFile4) =="yes" --bamOutput $bamOutput_output #end if ##TODO the standard error is redirected to the log file 2> $log ]]></command> <inputs> <expand macro="reference_loc"/> <param format="bam" name="input1" type="data" label="tumor bam" help="bamfile"/> <param format="bam" name="input2" type="data" label="normal bam" help="bamfile"/> <param format="vcf" name="dbSNP" type="data" optional="true" label="dbsnp file.vcf" help="vcf file"/> <param format="vcf" name="cosmic" type="data" optional="true" label="cosmic file.vcf" help="vcf file"/> <param format="bed" name="list" type="data" optional="true" label="position list" help="bed file"/> <param format="vcf" name="alleles" type="data" optional="true" label="set of alleles use in genotyping" help="vcf file"/> <conditional name="advanced"> <param name="advanced_parameters" type="select" label="advanced_parameters"> <option value="hide" selected="true">Hide</option> <option value="show">Show</option> </param> <when value="hide"/> <when value="show"> <param name="heterozygosity" type="float" optional="true" value="0.001" help="Heterozygosity value used to compute prior likelihoods for any locus" /> <param name="heterozygosity_stdev" type="float" optional="true" value="0.01" help="Standard deviation of eterozygosity for SNP and indel calling"/> <param name="indel_heterozygosity" type="text" value="1.25E-4" optional="true" help="Heterozygosity for indel calling" /> <param name="initial_normal_lod" type="float" optional="true" value="0.5" help="Initial LOD threshold for calling normal variant" /> <param name="initial_tumor_lod" type="float" optional="true" value="4.0" help="Initial LOD threshold for calling tumor variant" /> <param name="max_alt_allele_in_normal_fraction" type="float" optional="true" value="0.03" help="Threshold for maximum alternate allele fraction in normal" /> <param name="max_alt_alleles_in_normal_count" type="text" optional="true" value="1" help="Threshold for maximum alternate allele counts in normal" /> <param name="max_alt_alleles_in_normal_qscore_sum" type="text" optional="true" value="20" help="Threshold for maximum alternate allele quality score sum in normal" /> <param name="maxReadsInRegionPerSample" type="text" optional="true" value="1000" help="Maximum reads in an active region" /> <param name="min_base_quality_score" type="text" size="2" optional="true" value="10" help="Minimum base quality required to consider a base for calling" /> <param name="minReadsPerAlignmentStart" type="text" optional="true" value="5" help="Minimum number of reads sharing the same alignment start for each genomic location in an active region" /> <param name="normal_lod" type="float" optional="true" value="2.2" help="LOD threshold for calling normal non-germline" /> <param name="pir_mad_threshold" type="float" optional="true" value="3.0" help="threshold for clustered read position artifact MAD" /> <param name="pir_median_threshold" type="float" optional="true" value="10.0" help="threshold for clustered read position artifact median" /> <param name="power_constant_qscore" type="text" optional="true" value="30" help="Phred scale quality score constant to use in power calculations" /> <param name="sample_ploidy" type="text" optional="true" value="2" help="ploidy per sample" /> <param name="standard_min_confidence_threshold_for_calling" type="float" optional="true" value="10.0" help="The minimum phred-scaled confidence threshold at which variants should be called" /> <param name="tumor_lod" type="float" optional="true" value="6.3" help="LOD threshold for calling tumor variant" /> <param name="contamination_fraction_to_filter" type="float" optional="true" value="0.0" help="Fraction of contamination to aggressively remove" /> <param name="dbsnp_normal_lod" type="float" optional="true" value="5.5" help="LOD threshold for calling normal non-variant at dbsnp sites" /> <param name="debug_read_name" type="text" optional="true" value="" help="trace this read name through the calling process" /> <param name="genotyping_mode" type="select" optional="true" help="Specifies how to determine the alternate alleles to use for genotyping" > <option value="DISCOVERY" selected="true">DISCOVERY</option> <option value="GENOTYPE_GIVEN_ALLELES">GENOTYPE_GIVEN_ALLELES</option> </param> <param name="group" type="text" optional="true" help="one or more classes, groups of annotation to apply to variant call" /> </when> </conditional> <conditional name="optional_out1"> <param name="outFile1" type="select" label="activeRegionOut"> <option value="no" selected="true">no</option> <option value="yes">yes</option> </param> <when value="no"/> <when value="yes"/> </conditional> <conditional name="optional_out2"> <param name="outFile2" type="select" label="activityprofileOut"> <option value="no" selected="true">no</option> <option value="yes">yes</option> </param> <when value="no"/> <when value="yes"/> </conditional> <conditional name="optional_out3"> <param name="outFile3" type="select" label="graphOutput"> <option value="no" selected="true">no</option> <option value="yes">yes</option> </param> <when value="no"/> <when value="yes"/> </conditional> <conditional name="optional_out4"> <param name="outFile4" type="select" label="Bamoutput"> <option value="no" selected="true">no</option> <option value="yes">yes</option> </param> <when value="no"/> <when value="yes"/> </conditional> </inputs> <outputs> <data format="vcf" name="output" label="${tool.name} on ${on_string}"/> <data format="txt" name="log" label="${tool.name} on ${on_string} :log"/> <data format="txt" name="activeRegionOut_output" optional="true" label="${tool.name} on ${on_string} :activeRegionOut"> <filter>optional_out1['outFile1'] == 'yes'</filter> </data> <data format="txt" name="activityProfileOut_output" label="${tool.name} on ${on_string} :activityProfileOut"> <filter>optional_out2['outFile2'] == 'yes'</filter> </data> <data format="txt" name="graphOutput_output" label="${tool.name} on ${on_string} :graphOutput"> <filter>optional_out3['outFile3'] == 'yes'</filter> </data> <data format="txt" name="bamOutput_output" label="${tool.name} on ${on_string} :bamOutput"> <filter>optional_out4['outFile4'] == 'yes'</filter> </data> </outputs> <tests> <test> <conditional name="reference_source"> <param name="reference_source_selector" value="history"/> <param name="ref_file" value="test_fasta.fa"/> </conditional> <param name="input1" value="mutect2_test_tumoral2.bam" /> <param name="input2" value="mutect2_test_normal2.bam" /> </test> </tests> <help> **IMPORTANT** to get the wrapper ready to start the admin user have to download gatk GATK 3.8-0-ge9d806836 from the broadinstitute site https://software.broadinstitute.org/gatk/download/archive and then move it in the conda_prefix folder the path of the conda_prefix is written in the galaxy.ini(or .yml) file MuTect2 is a somatic SNP and indel caller that combines the DREAM challenge-winning somatic genotyping engine of the original MuTect (Cibulskis et al., 2013) with the assembly-based machinery of HaplotypeCaller. Galaxy wrapper for MuTect2 implements most but not all options available through the command line. Supported options are described below. **Optional Inputs** + --alleles none Set of alleles to use in genotyping + --cosmic [] VCF file of COSMIC sites + --dbsnp none dbSNP file + --activityProfileOut NA Output the raw activity profile results in IGV format + --graphOutput NA Write debug assembly graph information to this file **Optional Parameters** + --contamination_fraction_to_filter 0.0 Fraction of contamination to aggressively remove + --dbsnp_normal_lod 5.5 LOD threshold for calling normal non-variant at dbsnp sites + --debug_read_name NA trace this read name through the calling process + --genotyping_mode DISCOVERY Specifies how to determine the alternate alleles to use for genotyping + --group [] One or more classes/groups of annotations to apply to variant calls + --heterozygosity 0.001 Heterozygosity value used to compute prior likelihoods for any locus + --heterozygosity_stdev 0.01 Standard deviation of eterozygosity for SNP and indel calling + --indel_heterozygosity 1.25E-4 Heterozygosity for indel calling + --initial_normal_lod 0.5 Initial LOD threshold for calling normal variant + --initial_tumor_lod 4.0 Initial LOD threshold for calling tumor variant + --max_alt_allele_in_normal_fraction 0.03 Threshold for maximum alternate allele fraction in normal + --max_alt_alleles_in_normal_count 1 Threshold for maximum alternate allele counts in normal + --max_alt_alleles_in_normal_qscore_sum 20 Threshold for maximum alternate allele quality score sum in normal + --maxReadsInRegionPerSample 1000 Maximum reads in an active region + --min_base_quality_score 10 Minimum base quality required to consider a base for calling + --minReadsPerAlignmentStart 5 Minimum number of reads sharing the same alignment start for each genomic location in an active region + --normal_lod 2.2 LOD threshold for calling normal non-germline + --pir_mad_threshold 3.0 threshold for clustered read position artifact MAD + --pir_median_threshold 10.0 threshold for clustered read position artifact median + --power_constant_qscore 30 Phred scale quality score constant to use in power calculations + --sample_ploidy 2 Ploidy per sample. For pooled data, set to (Number of samples in each pool * Sample Ploidy). + --standard_min_confidence_threshold_for_calling 10.0 The minimum phred-scaled confidence threshold at which variants should be called + --tumor_lod 6.3 LOD threshold for calling tumor variant **Advanced Outputs** + --bamOutput + --activeRegionOut + --activityProfileOut + --graphOutput more information at https://software.broadinstitute.org/gatk/documentation/tooldocs/3.8-0/org_broadinstitute_gatk_tools_walkers_cancer_m2_MuTect2.php </help> <citations> <citation type="doi">10.1038/nbt.2514</citation> </citations> </tool>