Mercurial > repos > iuc > snpeff
diff readme.rst @ 0:e8adfc4c0a6b draft
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author | iuc |
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date | Wed, 11 Dec 2013 08:53:32 -0500 |
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children | 500832f27cbc |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/readme.rst Wed Dec 11 08:53:32 2013 -0500 @@ -0,0 +1,24 @@ +These are galaxy tools for SnpEff a variant annotation and effect prediction tool by Pablo Cingolani. +It annotates and predicts the effects of variants on genes (such as amino acid changes). +( http://snpeff.sourceforge.net/ ) + +This repository contains a tool_dependencies.xml file that will attempt to automatically install SnpEff and SnpSift. + +This will use the default location for genome reference downloads from the snpEff.config: +data_dir = ~/snpEff/data/ +You can manually edit the installed snpEff.config and change the location, or you can create a symbolic link to the desired data location from ~/snpEff. + +The genome reference options used by the tools: + "SnpEff" snpEff.xml + "SnpEff Download" snpEff_download.xml +are taken from: tool-data/snpeffect_genomedb.loc + +There are 2 datamanagers to download and install prebuilt SnpEff Genome databases: + data_manager_snpeff_databases - generates a list of available SnpEff genome databases into the tool-data/snpeff_databases.loc + data_manager_snpeff_download - downloads a SnpEff genome database selected from: tool-data/snpeff_databases.loc and adds entries to snpeff_genomedb.loc,snpeff_regulationdb.loc,snpeff_annotations.loc + +SnpEff citation: +"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.", Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. Fly (Austin). 2012 Apr-Jun;6(2):80-92. PMID: 22728672 [PubMed - in process] + +SnpSift citation: +"Using Drosophila melanogaster as a model for genotoxic chemical mutational studies with a new program, SnpSift", Cingolani, P., et. al., Frontiers in Genetics, 3, 2012.