# HG changeset patch # User nilesh # Date 1372451108 14400 # Node ID be1edd8c72b7980cef4a19921e6aa2ca42093d6b Uploaded diff -r 000000000000 -r be1edd8c72b7 somatic_sniper.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/somatic_sniper.xml Fri Jun 28 16:25:08 2013 -0400 @@ -0,0 +1,171 @@ + + : identify single nucleotide positions that are different between tumor and normal + + somatic-sniper + + + 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" + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +| + + +**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 + + + + + + +