Mercurial > repos > saskia-hiltemann > annovar
diff README~ @ 1:ed770baa1f16 draft default tip
added support for LJB2, COSMIC67, CLINVAR, NCI60 annotations. Fixed DGV annotation, now uses new UCSC file named dgvMerged
author | saskia-hiltemann |
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date | Mon, 18 Nov 2013 10:43:57 -0500 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/README~ Mon Nov 18 10:43:57 2013 -0500 @@ -0,0 +1,213 @@ +ANNOVAR needs to be installed manually in the following way: + + +1) If you already have ANNOVAR installed on your system, simply edit the tool-data/annovar.loc file to reflect locations of + the perl scripts (annotate_variation.pl and convert2annovar.pl) and humandb directory (directory containing the annovar database files) +1b) Restart galaxy instance for changes in .loc file to take effect + + +2) If you do not have ANNOVAR installed, request annovar download and sign license here: + http://www.openbioinformatics.org/annovar/annovar_download_form.php + + 3) Once downloaded, install annovar per the installation instructions and edit annovar.loc file to reflect location of directory containing perl scripts. + tool uses annotate_variation.pl and convert2annovar.pl + + 4) Then download all desired databases for all desired builds as follows: + annotate_variation.pl -downdb -buildver <build> [-webfrom annovar] <database> <humandb> + + where <humandb> is location where all database files should be stored + and <database> is the database file to download, e.g. refGene (see bottom of document for all available database files at the time of writing this tool) + and <build> can be hg18 or hg19 for humans, also other organisms available. + + list of all available databases can be found here: http://www.openbioinformatics.org/annovar/annovar_db.html + + 5) edit the tool-data/annovar.loc file to reflect location of humandb folder + 5b) restart galaxy instance for changes in .loc file to take effect + +6) Tool uses cgatools join for combining of files, this should be installed automatically with repository. If not, get a copy from Complete Genomics directly: + wget http://sourceforge.net/projects/cgatools/files/1.7.1/cgatools-1.7.1.5-linux_binary-x86_64.tar.gz + tar xvzf cgatools-1.7.1.5-linux_binary-x86_64.tar.gz + + and place the "cgatools" binary found in bin/ directory on your $PATH + + +list of files in my own humandb folder: + + hg18_ALL.sites.2012_04.txt + hg18_ALL.sites.2012_04.txt.idx + hg18_avsift.txt + hg18_avsift.txt.idx + hg18_CEU.sites.2010_07.txt + hg18_CEU.sites.2010_07.txt.idx + hg18_cg46.txt + hg18_cg46.txt.idx + hg18_cg69.txt + hg18_cg69.txt.idx + hg18_cytoBand.txt + hg18_dgv.txt + hg18_ensGeneMrna.fa + hg18_ensGene.txt + hg18_esp5400_aa.txt + hg18_esp5400_aa.txt.idx + hg18_esp5400_all.txt + hg18_esp5400_all.txt.idx + hg18_esp5400_ea.txt + hg18_esp5400_ea.txt.idx + hg18_esp6500_aa.txt + hg18_esp6500_aa.txt.idx + hg18_esp6500_all.txt + hg18_esp6500_all.txt.idx + hg18_esp6500_ea.txt + hg18_esp6500_ea.txt.idx + hg18_esp6500si_aa.txt + hg18_esp6500si_aa.txt.idx + hg18_esp6500si_all.txt + hg18_esp6500si_all.txt.idx + hg18_esp6500si_ea.txt + hg18_esp6500si_ea.txt.idx + hg18_example_db_generic.txt + hg18_example_db_gff3.txt + hg18_genomicSuperDups.txt + hg18_gerp++gt2.txt + hg18_gerp++gt2.txt.idx + hg18_gwasCatalog.txt + hg18_JPTCHB.sites.2010_07.txt + hg18_JPTCHB.sites.2010_07.txt.idx + hg18_keggMapDesc.txt + hg18_keggPathway.txt + hg18_kgXref.txt + hg18_knownGeneMrna.fa + hg18_knownGene.txt + hg18_ljb_all.txt + hg18_ljb_all.txt.idx + hg18_ljb_lrt.txt + hg18_ljb_lrt.txt.idx + hg18_ljb_mt.txt + hg18_ljb_mt.txt.idx + hg18_ljb_phylop.txt + hg18_ljb_phylop.txt.idx + hg18_ljb_pp2.txt + hg18_ljb_pp2.txt.idx + hg18_ljb_sift.txt + hg18_ljb_sift.txt.idx + hg18_phastConsElements44way.txt + hg18_refGeneMrna.fa + hg18_refGene.txt + hg18_refLink.txt + hg18_snp128NonFlagged.txt + hg18_snp128NonFlagged.txt.idx + hg18_snp128.txt + hg18_snp128.txt.idx + hg18_snp129NonFlagged.txt + hg18_snp129NonFlagged.txt.idx + hg18_snp129.txt + hg18_snp129.txt.idx + hg18_snp130NonFlagged.txt + hg18_snp130NonFlagged.txt.idx + hg18_snp130.txt + hg18_snp130.txt.idx + hg18_snp131NonFlagged.txt + hg18_snp131NonFlagged.txt.idx + hg18_snp131.txt + hg18_snp131.txt.idx + hg18_snp132NonFlagged.txt + hg18_snp132NonFlagged.txt.idx + hg18_snp132.txt + hg18_snp132.txt.idx + hg18_tfbsConsSites.txt + hg18_YRI.sites.2010_07.txt + hg18_YRI.sites.2010_07.txt.idx + hg19_AFR.sites.2012_04.txt + hg19_AFR.sites.2012_04.txt.idx + hg19_ALL.sites.2010_11.txt + hg19_ALL.sites.2010_11.txt.idx + hg19_ALL.sites.2012_02.txt + hg19_ALL.sites.2012_02.txt.idx + hg19_ALL.sites.2012_04.txt + hg19_ALL.sites.2012_04.txt.idx + hg19_AMR.sites.2012_04.txt + hg19_AMR.sites.2012_04.txt.idx + hg19_ASN.sites.2012_04.txt + hg19_ASN.sites.2012_04.txt.idx + hg19_avsift.txt + hg19_avsift.txt.idx + hg19_cg46.txt + hg19_cg46.txt.idx + hg19_cg69.txt + hg19_cg69.txt.idx + hg19_cosmic61.txt + hg19_cosmic61.txt.idx + hg19_cosmic63.txt + hg19_cosmic63.txt.idx + hg19_cosmic64.txt + hg19_cosmic64.txt.idx + hg19_cosmic65.txt + hg19_cosmic65.txt.idx + hg19_cytoBand.txt + hg19_dgv.txt + hg19_ensGeneMrna.fa + hg19_ensGene.txt + hg19_esp5400_aa.txt + hg19_esp5400_aa.txt.idx + hg19_esp5400_all.txt + hg19_esp5400_all.txt.idx + hg19_esp5400_ea.txt + hg19_esp5400_ea.txt.idx + hg19_esp6500_aa.txt + hg19_esp6500_aa.txt.idx + hg19_esp6500_all.txt + hg19_esp6500_all.txt.idx + hg19_esp6500_ea.txt + hg19_esp6500_ea.txt.idx + hg19_esp6500si_aa.txt + hg19_esp6500si_aa.txt.idx + hg19_esp6500si_all.txt + hg19_esp6500si_all.txt.idx + hg19_esp6500si_ea.txt + hg19_esp6500si_ea.txt.idx + hg19_EUR.sites.2012_04.txt + hg19_EUR.sites.2012_04.txt.idx + hg19_genomicSuperDups.txt + hg19_gerp++gt2.txt + hg19_gerp++gt2.txt.idx + hg19_gwasCatalog.txt + hg19_keggMapDesc.txt + hg19_keggPathway.txt + hg19_kgXref.txt + hg19_knownGeneMrna.fa + hg19_knownGene.txt + hg19_ljb_all.txt + hg19_ljb_all.txt.idx + hg19_ljb_lrt.txt + hg19_ljb_lrt.txt.idx + hg19_ljb_mt.txt + hg19_ljb_mt.txt.idx + hg19_ljb_phylop.txt + hg19_ljb_phylop.txt.idx + hg19_ljb_pp2.txt + hg19_ljb_pp2.txt.idx + hg19_ljb_sift.txt + hg19_ljb_sift.txt.idx + hg19_phastConsElements46way.txt + hg19_refGeneMrna.fa + hg19_refGene.txt + hg19_refLink.txt + hg19_snp130NonFlagged.txt + hg19_snp130NonFlagged.txt.idx + hg19_snp130.txt + hg19_snp130.txt.idx + hg19_snp131NonFlagged.txt + hg19_snp131NonFlagged.txt.idx + hg19_snp131.txt + hg19_snp132NonFlagged.txt + hg19_snp132NonFlagged.txt.idx + hg19_snp132.txt + hg19_snp132.txt.idx + hg19_snp135NonFlagged.txt + hg19_snp135NonFlagged.txt.idx + hg19_snp135.txt + hg19_snp137NonFlagged.txt + hg19_snp137NonFlagged.txt.idx + hg19_snp137.txt + hg19_tfbsConsSites.txt +