# HG changeset patch # User Jim Johnson # Date 1368467107 18000 # Node ID 13b6ad2ddace6ad4e50ca24f2df725736aa60c72 # Parent b26a1aff7f81aefc1c5baaa6fc05a78cd765cc63 SnpEffect v3.2 diff -r b26a1aff7f81 -r 13b6ad2ddace snpEff.xml --- a/snpEff.xml Thu Mar 28 12:29:45 2013 -0500 +++ b/snpEff.xml Mon May 13 12:45:07 2013 -0500 @@ -1,12 +1,67 @@ - + Variant effect and annotation - snpEff + snpEff SNPEFF_DATA_DIR=`grep '^data_dir' \$JAVA_JAR_PATH/snpEff.config | sed 's/.*data_dir.*[=:]//'`; @@ -14,14 +69,28 @@ then java -Xmx6G -jar \$JAVA_JAR_PATH/snpEff.jar download -c \$JAVA_JAR_PATH/snpEff.config $genomeVersion ; fi"; java -Xmx6G -jar \$JAVA_JAR_PATH/snpEff.jar eff -c \$JAVA_JAR_PATH/snpEff.config -i $inputFormat -o $outputFormat -upDownStreamLen $udLength +#if $spliceSiteSize and $spliceSiteSize.__str__ != '': + -spliceSiteSize $spliceSiteSize +#end if #if $filterIn and $filterIn.__str__ != 'no_filter': -$filterIn #end if #if $filterHomHet and $filterHomHet.__str__ != 'no_filter': -$filterHomHet #end if +#if $annotations and $annotations.__str__ != '': + -#slurp + #echo ' -'.join($annotations.__str__.split(',')) +#end if #if $filterOut and $filterOut.__str__ != '': - #echo ' '.join($filterOut.__str__.split(',')) + -#slurp + #echo ' -'.join($filterOut.__str__.split(',')) +#end if +#if str( $transcripts ) != 'None': + -onlyTr $transcripts +#end if +#if str( $intervals ) != 'None': ### fix this for multiple dataset input + -interval $intervals #end if #if $statsFile: -stats $statsFile @@ -29,26 +98,30 @@ #if $offset.__str__ != '': -${offset} #end if - $genomeVersion $input > $snpeff_output +#if $chr.__str__.strip() != '': + -chr "$chr" +#end if + $noLog $genomeVersion $input > $snpeff_output - - - - + + + + + - + @@ -66,40 +139,82 @@ - + + + + + + + + + + + + + - + - + + - + - + + + + + + + + + + + + - - - - - - - + + These are available for only a few genomes + + + + + + + - + + + + + + + + + + + + - + + ^\S*$ + + + + - + + - @@ -110,8 +225,8 @@ - + @@ -122,20 +237,26 @@ - + + - + + + + --> + @@ -184,7 +305,7 @@ - + diff -r b26a1aff7f81 -r 13b6ad2ddace snpEff_download.xml --- a/snpEff_download.xml Thu Mar 28 12:29:45 2013 -0500 +++ b/snpEff_download.xml Mon May 13 12:45:07 2013 -0500 @@ -1,7 +1,7 @@ - + Download a new database - snpEff + snpEff java -jar \$JAVA_JAR_PATH/snpEff.jar download -c \$JAVA_JAR_PATH/snpEff.config $genomeVersion > $logfile diff -r b26a1aff7f81 -r 13b6ad2ddace snpSift_annotate.xml --- a/snpSift_annotate.xml Thu Mar 28 12:29:45 2013 -0500 +++ b/snpSift_annotate.xml Mon May 13 12:45:07 2013 -0500 @@ -1,16 +1,37 @@ - + Annotate SNPs from dbSnp - snpEff + snpEff - java -Xmx6G -jar \$JAVA_JAR_PATH/SnpSift.jar annotate -q $dbSnp $input > $output + + java -Xmx6G -jar \$JAVA_JAR_PATH/SnpSift.jar $annotate_cmd + #if $annotate.id : + -id + #elif $annotate.info_ids.__str__.strip() != '' : + -info "$annotate.info_ids" + #end if + -q $dbSnp $input > $output + - + + + + + + + + ^(([a-zA-Z][a-zA-Z0-9_-]*)(,[a-zA-Z][a-zA-Z0-9_-]*)*)?$ + + + @@ -24,6 +45,8 @@ + + diff -r b26a1aff7f81 -r 13b6ad2ddace snpSift_caseControl.xml --- a/snpSift_caseControl.xml Thu Mar 28 12:29:45 2013 -0500 +++ b/snpSift_caseControl.xml Mon May 13 12:45:07 2013 -0500 @@ -1,37 +1,50 @@ - - Count samples are in 'case' and 'control' groups. - - - snpEff - - - java -Xmx1G -jar \$JAVA_JAR_PATH/SnpSift.jar caseControl -q $hhCase $hhControl '$caseControStr' $input > $output - - - - - - - - - - - - - - - -Case and control are defined by a string containing plus and minus symbols {'+', '-', '0'} where '+' is case, '-' is control and '0' is neutral - - [+-0]+ - - - - - + + Count samples are in 'case' and 'control' groups. + + + snpEff + + + java -Xmx1G -jar \$JAVA_JAR_PATH/SnpSift.jar caseControl -q + #if $name.__str__.strip() != '': + -name $name + #end if + #if $ctrl.ctrl_src == 'caseString': + '$ctrl.caseControlStr' + #else + -tfam "$ctrl.tfam" + #end if + $input > $output + + + + + + + + + + + + Case and control are defined by a string containing plus and minus symbols {'+', '-', '0'} where '+' is case, '-' is control and '0' is neutral + + [+-0]+ + + + + + + + + [_a-zA-Z0-9]+ + + + + + @@ -40,43 +53,44 @@ - - - + + - + + - - - + + - + + - - - + + + - + + - + **SnpSift CaseControl** @@ -107,5 +121,5 @@ For details about this tool, please go to http://snpeff.sourceforge.net/SnpSift.html#casecontrol - + diff -r b26a1aff7f81 -r 13b6ad2ddace snpSift_filter.xml --- a/snpSift_filter.xml Thu Mar 28 12:29:45 2013 -0500 +++ b/snpSift_filter.xml Mon May 13 12:45:07 2013 -0500 @@ -1,20 +1,30 @@ - + Filter variants using arbitrary expressions - - snpEff + snpEff - java -Xmx6G -jar \$JAVA_JAR_PATH/SnpSift.jar filter -f $input -e $exprFile > $output + java -Xmx6G -jar \$JAVA_JAR_PATH/SnpSift.jar filter -f $input -e $exprFile $inverse $pass + #if $filterId and len($filterId.__str__.strip()) > 0: + --filterId = "$filterId" + #end if + #if $addFilter and len($addFilter.__str__.strip()) > 0: + --addFilter = "$addFilter" + #end if + #if $rmFilter and len($rmFilter.__str__.strip()) > 0: + --rmFilter = "$rmFilter" + #end if + > $output - + + + + + + @@ -37,7 +47,7 @@ - + @@ -56,7 +66,7 @@ - + diff -r b26a1aff7f81 -r 13b6ad2ddace snpSift_int.xml --- a/snpSift_int.xml Thu Mar 28 12:29:45 2013 -0500 +++ b/snpSift_int.xml Mon May 13 12:45:07 2013 -0500 @@ -1,18 +1,20 @@ - + Filter variants using intervals - snpEff + snpEff - cat $input | java -Xmx2G -jar \$JAVA_JAR_PATH/SnpSift.jar int $bedFile > $output + java -Xmx2G -jar \$JAVA_JAR_PATH/SnpSift.jar intervals -i $input $exclude $bedFile > $output + @@ -22,9 +24,11 @@ + + @@ -33,6 +37,18 @@ + + + + + + + + + + + + diff -r b26a1aff7f81 -r 13b6ad2ddace test-data/interval.bed --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/interval.bed Mon May 13 12:45:07 2013 -0500 @@ -0,0 +1,10 @@ +chr1 1 100000 +chr1 100000 200000 +chr1 200000 300000 +chr1 300000 400000 +chr1 400000 500000 +chr1 500000 600000 +chr1 600000 700000 +chr1 700000 800000 +chr1 800000 900000 +chr1 900000 1000000 diff -r b26a1aff7f81 -r 13b6ad2ddace tool-data/snpeffect_regulationdb.loc.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tool-data/snpeffect_regulationdb.loc.sample Mon May 13 12:45:07 2013 -0500 @@ -0,0 +1,19 @@ +## Databases for SnpEff +## These are from the list on: http://snpeff.sourceforge.net/download.html +## the Description field in this sample is "Genome : Version" +#Genome Regulation_Name +GRCh37.70 CD4 +GRCh37.70 GM06990 +GRCh37.70 GM12878 +GRCh37.70 H1ESC +GRCh37.70 HMEC +GRCh37.70 HSMM +GRCh37.70 HUVEC +GRCh37.70 HeLa-S3 +GRCh37.70 HepG2 +GRCh37.70 IMR90 +GRCh37.70 K562 +GRCh37.70 K562b +GRCh37.70 NH-A +GRCh37.70 NHEK + diff -r b26a1aff7f81 -r 13b6ad2ddace tool_dependencies.xml --- a/tool_dependencies.xml Thu Mar 28 12:29:45 2013 -0500 +++ b/tool_dependencies.xml Mon May 13 12:45:07 2013 -0500 @@ -1,22 +1,7 @@ - - - - http://sourceforge.net/projects/snpeff/files/snpEff_v3_1_core.zip - - . - $INSTALL_DIR - - - $INSTALL_DIR - - - $INSTALL_DIR/scripts - - - - - + + +