# HG changeset patch # User devteam # Date 1384704536 18000 # Node ID 6f8cead3dc9383fb29de98c3aa328c25edd4c171 Initial commit of all needed files. diff -r 000000000000 -r 6f8cead3dc93 test-data/test_in1.pileup --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/test_in1.pileup Sun Nov 17 11:08:56 2013 -0500 @@ -0,0 +1,13 @@ +chr1 10087 a 41 ..+1C...........,,,,,.....C..C,...,..,,..c,.+1C A9D<<#C#<(C9ACAFF=(#;D#;AF=7898.GJ'6I +chr1 10088 c 41 .......T.....,,,,,.........,..A,..,,..,,. 2BBB<#B#A5?5?GJ;JD?@A?;#6B#HEG)GBBIB>IEE! +chr1 10089 c 41 .............,,,,,.........,...,..,,..,,. 8BBB<#D#?5A9AHJ;IFBBB??#6A#FEG8C=>H?FJ@C$ +chr1 10090 c 41 .............,,,,,.........,...,..,,..,,. 2#AB(#9#9(A<I);J +chr1 10094 c 41 .............,,,,,.....G...,...,..,,..,,T ?#?B?#?#<8A8ABJBIG9D?9<#,?#F#IHH(AIGEHGH6 +chr1 10095 c 41 A............,,,,,.........,...,..,,..,,. ##8B<#A#??B8#>=F(@HHCIBH6 +chr1 10096 c 41 .............,,,,,........A,...,..,,..,,. ##ADA#B#18B?AHI9.D!.$J diff -r 000000000000 -r 6f8cead3dc93 test-data/test_out1.vcf --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/test_out1.vcf Sun Nov 17 11:08:56 2013 -0500 @@ -0,0 +1,26 @@ +##fileformat=VCFv4.1 +##source=VarScan2 +##INFO== 15"> +##INFO= +##INFO= +##INFO= +##INFO= +##FILTER= +##FILTER= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT== 15"> +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample1 +chr1 10087 . A AC . PASS ADP=33;WT=0;HET=1;HOM=0;NC=0 GT:GQ:SDP:DP:RD:AD:FREQ:PVAL:RBQ:ABQ:RDF:RDR:ADF:ADR 0/1:0:41:33:31:2:6.06%:9.8E-1:30:32:22:9:2:0 +chr1 10097 . TA T . PASS ADP=30;WT=0;HET=1;HOM=0;NC=0 GT:GQ:SDP:DP:RD:AD:FREQ:PVAL:RBQ:ABQ:RDF:RDR:ADF:ADR 0/1:0:41:30:28:2:6.67%:9.8E-1:29:36:18:10:1:1 diff -r 000000000000 -r 6f8cead3dc93 tool_dependencies.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tool_dependencies.xml Sun Nov 17 11:08:56 2013 -0500 @@ -0,0 +1,19 @@ + + + + + + http://downloads.sourceforge.net/project/varscan/VarScan.v2.3.6.jar + + VarScan.v2.3.6.jar + $INSTALL_DIR/jars + + + $INSTALL_DIR/jars + + + + + + + diff -r 000000000000 -r 6f8cead3dc93 varscan_mpileup.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/varscan_mpileup.xml Sun Nov 17 11:08:56 2013 -0500 @@ -0,0 +1,155 @@ + + for variant detection + + + varscan + + + + + + ## Set up samples list file. + #if $sample_names.strip() != '': + echo $sample_names | awk -F ',' '{ for (i = 1; i <= NF; i++) { print \$i; } }' > samples_list.txt; + #end if + + ## Set up command + input. + java -jar \$JAVA_JAR_PATH/VarScan.v2.3.6.jar ${cmd} ${input} + --min-coverage ${min_coverage} + --min-reads2 ${min_supporting_reads} + --min-avg-qual ${min_avg_qual} + --min-var-freq ${min_var_freq} + --min-freq-for-hom ${min_freq_for_hom} + --p-value ${p_value} + #if str($strand_filter) == 'yes': + --strand-filter 1 + #end if + + ## Report only variants in consensus. + #if str($cmd) == 'mpileup2cns': + --variants + #end if + + ## Set up outputs. + --output-vcf 1 > $output + + #if $sample_names.strip() != '': + --vcf-sample-list samples_list.txt + #end if + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +**VarScan Overview** + +VarScan_ performs variant detection for massively parallel sequencing data, such as exome, WGS, and transcriptome data. It calls variants from a mpileup dataset and produces a VCF 4.1 Full documentation is available online_. + +Please cite: Koboldt, D., Zhang, Q., Larson, D., Shen, D., McLellan, M., Lin, L., Miller, C., Mardis, E., Ding, L., and Wilson, R. (2012). VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing Genome Research DOI: 10.1101/gr.129684.111 + +.. _VarScan: http://varscan.sourceforge.net/ +.. _online: http://varscan.sourceforge.net/using-varscan.html + +**Input** + +:: + + mpileup file - The SAMtools mpileup file + + +**Output** + +VarScan produces a VCF 4.1 dataset as output. + +**Parameters** + +:: + + analysis type + single nucleotide detection Identify SNPs from an mpileup file + insertions and deletion Identify indels an mpileup file + consensus genotype Call consensus and variants from an mpileup file + + min-coverage + Minimum read depth at a position to make a call [8] + + min-reads2 + Minimum supporting reads at a position to call variants [2] + + min-avg-qual + Minimum base quality at a position to count a read [15] + + min-var-freq + Minimum variant allele frequency threshold [0.01] + + min-freq-for-hom + Minimum frequency to call homozygote [0.75] + + p-value + Default p-value threshold for calling variants [99e-02] + + strand-filter + Ignore variants with >90% support on one strand [1] + + output-vcf + If set to 1, outputs in VCF format + + vcf-sample-list + For VCF output, a list of sample names in order, one per line + + variants + Report only variant (SNP/indel) positions [0] + + +