Mercurial > repos > nilesh > somaticsniper
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author | nilesh |
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date | Fri, 12 Jul 2013 15:21:36 -0500 |
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<tool id="somatic_sniper_tool" name="Somatic Sniper" version="1.0.2"> <description>: identify single nucleotide positions that are different between tumor and normal</description> <requirements> <requirement type="package" version="1.0.0">somatic-sniper</requirement> </requirements> <command interpreter="perl"> somatic_sniper_wrapper.pl "NORMAL::$normal" "TUMOR::$tumor" "OUTPUT::$snp_output" "OPTION::-F $output" #if $option.option == "modify_parameters": "OPTION::-q $option.readFilter" "OPTION::-Q $option.somaticFilter" "OPTION::-s $option.mutationPrior" #if str($option.disablePriors) == "true" "OPTION::-p" #end if #end if "OPTION::-f $reference.fields.path" </command> <inputs> <param name="reference" type="select" label="Select a reference genome"> <options from_data_table="all_fasta"> <filter type="sort_by" column="2" /> <validator type="no_options" message="No indexes are available" /> </options> </param> <param format="bam" name="normal" type="data" label="Normal sample" help=""/> <param format="bam" name="tumor" type="data" label="Tumor Sample" help=""/> <param name="output" type="select" label="Output Type" help="" optional="true"> <option value="classic" selected="true">Classic</option> <option value="vcf">VCF</option> <option value="bed">BED</option> </param> <conditional name="option"> <param name="option" type="select" label="Optional Parameters" help="" optional="true"> <option value="default_parameters" selected="true">Default Parameters</option> <option value="modify_parameters">Modify Parameters</option> </param> <when value="modify_parameters"> <param name="readFilter" label="filtering reads with mapping quality less than" type="integer" value="0" optional="true" /> <param name="somaticFilter" label="filtering somatic snv output with somatic quality less than" type="integer" value="15" optional="true" /> <param name="disablePriors" type="select" label="disable priors in the somatic calculation. Increases sensitivity for solid tumors" help="" optional="true"> <option value="true" >true</option> <option value="false" selected="true">false</option> </param> <param name="mutationPrior" label="prior probability of a somatic mutation" type="float" value="0.10000" optional="true" /> </when> </conditional> </inputs> <outputs> <data name="snp_output" format="text" label="${tool.name} result on ${on_string}" /> </outputs> <help> | **Reference** http://gmt.genome.wustl.edu/somatic-sniper/current/ ----- **What it does** The purpose of this program is to identify single nucleotide positions that are different between tumor and normal (or, in theory, any two bam files). It takes a tumor bam and a normal bam and compares the two to determine the differences. It outputs a file in a format very similar to Samtools consensus format. It uses the genotype likelihood model of MAQ (as implemented in Samtools) and then calculates the probability that the tumor and normal genotypes are different. This probability is reported as a somatic score. The somatic score is the Phred-scaled probability (between 0 to 255) that the Tumor and Normal genotypes are not different where 0 means there is no probability that the genotypes are different and 255 means there is a probability of 1 – 10(255/-10) that the genotypes are different between tumor and normal. This is consistent with how the SAM format reports such probabilities. bam-somaticsniper [options] -f ref.fasta tumor.bam normal.bam snp_output_file Bam files must contain LB tag in @RG line. Picard tools can be used to add lines to BAM headers. ----- **Required Parameters** :: -f FILE REQUIRED reference sequence in the FASTA format ----- **Options** :: -q INT filtering reads with mapping quality less than INT [0] -Q INT filtering somatic snv output with somatic quality less than INT [15] -p FLAG disable priors in the somatic calculation. Increases sensitivity for solid tumors -J FLAG Use prior probabilities accounting for the somatic mutation rate -s FLOAT prior probability of a somatic mutation (implies -J) [0.010000] -T FLOAT theta in maq consensus calling model (for -c/-g) [0.850000] -N INT number of haplotypes in the sample (for -c/-g) [2] -r FLOAT prior of a difference between two haplotypes (for -c/-g) [0.001000] -F STRING select output format [classic] Available formats: classic vcf bed ----- **File Formats** :: Classic: Each line contains the following tab-separated values: 1. Chromosome 2. Position 3. Reference base 4. IUB genotype of tumor 5. IUB genotype of normal 6. Somatic Score 7. Tumor Consensus quality 8. Tumor variant allele quality 9. Tumor mean mapping quality 10. Normal Consensus quality 11. Normal variant allele quality 12. Normal mean mapping quality 13. Depth in tumor (# of reads crossing the position) 14. Depth in normal (# of reads crossing the position) 15. Mean base quality of reads supporting reference in tumor 16. Mean mapping quality of reads supporting reference in tumor 17. Depth of reads supporting reference in tumor 18. Mean base quality of reads supporting variant(s) in tumor 19. Mean mapping quality of reads supporting variant(s) in tumor 20. Depth of reads supporting variant(s) in tumor 21. Mean base quality of reads supporting reference in normal 22. Mean mapping quality of reads supporting reference in normal 23. Depth of reads supporting reference in normal 24. Mean base quality of reads supporting variant(s) in normal 25. Mean mapping quality of reads supporting variant(s) in normal 26. Depth of reads supporting variant(s) in normal </help> </tool>