Mercurial > repos > jjohnson > snpsift
view readme.rst @ 3:1739678def32
Add vcfCheck and test cases
author | Jim Johnson <jj@umn.edu> |
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date | Thu, 23 Oct 2014 06:06:25 -0500 |
parents | 1ae5526db990 |
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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. 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.