Mercurial > repos > jjohnson > snpeff
comparison README @ 5:8952990fcab9
Update to snpEff version 3.4 and add data managers to download snpEff genome reference databases
| author | Jim Johnson <jj@umn.edu> |
|---|---|
| date | Wed, 27 Nov 2013 09:11:32 -0600 |
| parents | 6ad9205c1307 |
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| 4:47ddc9f4d0b6 | 5:8952990fcab9 |
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| 1 These are galaxy tools for SnpEff ( http://snpeff.sourceforge.net/ ) | 1 These are galaxy tools for SnpEff a variant annotation and effect prediction tool by Pablo Cingolani. |
| 2 It annotates and predicts the effects of variants on genes (such as amino acid changes). | |
| 3 ( http://snpeff.sourceforge.net/ ) | |
| 2 | 4 |
| 3 This repository contains a tool_dependencies.xml file that will attempt to automatically install SnpEff and SnpSift. | 5 This repository contains a tool_dependencies.xml file that will attempt to automatically install SnpEff and SnpSift. |
| 4 | 6 |
| 5 This will use the default location for genome reference downloads from the snpEff.config: | 7 This will use the default location for genome reference downloads from the snpEff.config: |
| 6 data_dir = ~/snpEff/data/ | 8 data_dir = ~/snpEff/data/ |
| 13 | 15 |
| 14 There are 2 datamanagers to download and install prebuilt SnpEff Genome databases: | 16 There are 2 datamanagers to download and install prebuilt SnpEff Genome databases: |
| 15 data_manager_snpeff_databases - generates a list of available SnpEff genome databases into the tool-data/snpeff_databases.loc | 17 data_manager_snpeff_databases - generates a list of available SnpEff genome databases into the tool-data/snpeff_databases.loc |
| 16 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 | 18 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 |
| 17 | 19 |
| 20 SnpEff citation: | |
| 21 "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] | |
| 18 | 22 |
| 23 SnpSift citation: | |
| 24 "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. |
