[[PageOutline]] = Installing and Setup WGSA in a local directory on Cypress = Decide a folder dedicated for the pipeline, for example '/lustre/project/group/WGSA'. Setup an environment variable and create workspaces as {{{ export $WGSA_DIR=/lustre/project/group/WGSA mkdir $WGSA_DIR cd $WGSA_DIR mkdir work mkdir tmp chmod 777 work chmod 777 tmp }}} Create a space for ANNOVAR, {{{ mkdir $WGSA_DIR/annovar }}} Download the ANNOVAR main package from [http://download.openbioinformatics.org/annovar_download_form.php here]. The package comes as annovar.latest.tar.gz, save it to $WGSA_DIR/annovar. Unzip it. {{{ cd $WGSA_DIR/annovar tar -zxvf annovar.latest.tar.gz }}} Download !RefSeq and !Ensembl gene models for ANNOVAR: {{{ cd $WGSA_DIR/annovar/annovar perl annotate_variation.pl -buildver hg19 -downdb -webfrom annovar refGene humandb/ perl annotate_variation.pl -buildver hg19 -downdb -webfrom annovar ensGene humandb/ perl annotate_variation.pl -buildver hg19 -downdb -webfrom annovar knownGene humandb/ perl annotate_variation.pl -buildver hg38 -downdb -webfrom annovar refGene humandb/ perl annotate_variation.pl -buildver hg38 -downdb -webfrom annovar ensGene humandb/ perl annotate_variation.pl -buildver hg38 -downdb -webfrom annovar knownGene humandb/ }}} Install !SnpEff (required for annotating indels with !SnpEff or annotating SNVs with !SnpEff on-the-fly) Download !SnpEff v4.3t main package and save the zip file to $WGSA_DIR/snpeff: {{{ mkdir $WGSA_DIR/snpeff cd $WGSA_DIR/snpeff wget http://sourceforge.net/projects/snpeff/files/snpEff_v4_3t_core.zip unzip snpEff_v4_3t_core.zip }}} Now you need a newer version of JavaSDK, to use it, you have to do on a computing node. Start a interactive session: {{{ idev }}} See [https://wiki.hpc.tulane.edu/trac/wiki/Workshops/IntroToHpc2015/using#SubmittingInteractiveJobs here] for more about 'idev'. Once you get to a computing node, make sure your corrent directory is $WGSA_DIR/snpeff Download !RefSeq and !Ensembl gene models for !SnpEff: {{{ cd snpEff java -jar snpEff.jar download -v hg19 java -jar snpEff.jar download -v GRCh37.75 java -jar snpEff.jar download -v hg38 java -jar snpEff.jar download -v GRCh38.86 }}} Exit from the computing node: {{{ exit }}} Install VEP (required for annotating indels with VEP or annotating SNVs with VEP on-the-fly) Download VEP 94 main package and save it to $WGSA_DIR/vep: {{{ mkdir $WGSA_DIR/vep cd $WGSA_DIR/vep wget https://github.com/Ensembl/ensembl-vep/archive/release/94.zip unzip 94.zip }}}