# HG changeset patch # User iuc # Date 1430362047 14400 # Node ID 26890eb5a1f11b68f9b923a4dfe8935c58006077 # Parent cfd163368d3b097c94464bbec0288a294e20d54b Uploaded diff -r cfd163368d3b -r 26890eb5a1f1 snpSift_geneSets.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/snpSift_geneSets.xml Wed Apr 29 22:47:27 2015 -0400 @@ -0,0 +1,67 @@ + + Annotating GeneSets, such as Gene Ontology, KEGG, Reactome + + + + snpSift_macros.xml + + + java -Xmx2G -jar \$SNPEFF_JAR_PATH/SnpSift.jar geneSets -v + #if $db_opts.db_opts_selector == "db" + "${db_opts.database.fields.path}" + #elif $db_opts.db_opts_selector == "histdb" + "$db_opts.histdb" + #end if + + $input 2> $log > $output + + + + + + + + + + + + + + + + + + + + + + + + + + + +This tool uses `SnpSift GeneSets`_ to add annotations from `MSigDB`_, a collection of annotated gene sets from different sources including Gene Ontology (GO), KEGG, Reactome. + +.. _SnpSift GeneSets: http://snpeff.sourceforge.net/SnpSift.html#geneSets + +.. class:: warningmark + +The input VCF file must be annotated using SnpEff before performing GeneSets annotations. This is because the tool must know which gene the variant affects. + +@EXTERNAL_DOCUMENTATION@ + +@CITATION_SECTION@ + +For `MSigDB`_, please cite |Subramanian2005|_. + +.. _MSigDB: http://www.broadinstitute.org/gsea/msigdb/ +.. |Subramanian2005| replace:: Subramanian, A., *et al.* (2005) Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles. *Proc. Natl. Acad. Sci. U.S.A.* 102(43), 15545-15550 +.. _Subramanian2005: http://www.pnas.org/content/102/43/15545 + + + 10.1073/pnas.0506580102 + + diff -r cfd163368d3b -r 26890eb5a1f1 tool-data/snpeff_msigdb_database.loc.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/tool-data/snpeff_msigdb_database.loc.sample Wed Apr 29 22:47:27 2015 -0400 @@ -0,0 +1,4 @@ +## Molecular Signatures Database (MSigDB) for SnpEff. +## You can download MSigDb from http://www.broadinstitute.org/gsea/msigdb +#msigdb_id msigdb_name path_to_database +#msigdb_08_2014 MSigDB 08-2014 /data/msigdb/08_2014/msigdb.gmt