Mercurial > repos > jjohnson > snpeff
annotate README @ 7:0ad9733e22a4
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| author | bgruening |
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| date | Fri, 29 Nov 2013 09:27:22 -0500 |
| parents | 8952990fcab9 |
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8952990fcab9
Update to snpEff version 3.4 and add data managers to download snpEff genome reference databases
Jim Johnson <jj@umn.edu>
parents:
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changeset
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1 These are galaxy tools for SnpEff a variant annotation and effect prediction tool by Pablo Cingolani. |
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8952990fcab9
Update to snpEff version 3.4 and add data managers to download snpEff genome reference databases
Jim Johnson <jj@umn.edu>
parents:
2
diff
changeset
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2 It annotates and predicts the effects of variants on genes (such as amino acid changes). |
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8952990fcab9
Update to snpEff version 3.4 and add data managers to download snpEff genome reference databases
Jim Johnson <jj@umn.edu>
parents:
2
diff
changeset
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3 ( http://snpeff.sourceforge.net/ ) |
| 2 | 4 |
| 5 This repository contains a tool_dependencies.xml file that will attempt to automatically install SnpEff and SnpSift. | |
| 6 | |
| 7 This will use the default location for genome reference downloads from the snpEff.config: | |
| 8 data_dir = ~/snpEff/data/ | |
| 9 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. | |
| 10 | |
| 0 | 11 The genome reference options used by the tools: |
| 12 "SnpEff" snpEff.xml | |
| 13 "SnpEff Download" snpEff_download.xml | |
| 14 are taken from: tool-data/snpeffect_genomedb.loc | |
| 15 | |
| 2 | 16 There are 2 datamanagers to download and install prebuilt SnpEff Genome databases: |
| 17 data_manager_snpeff_databases - generates a list of available SnpEff genome databases into the tool-data/snpeff_databases.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 | |
| 0 | 19 |
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8952990fcab9
Update to snpEff version 3.4 and add data managers to download snpEff genome reference databases
Jim Johnson <jj@umn.edu>
parents:
2
diff
changeset
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20 SnpEff citation: |
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8952990fcab9
Update to snpEff version 3.4 and add data managers to download snpEff genome reference databases
Jim Johnson <jj@umn.edu>
parents:
2
diff
changeset
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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] |
| 0 | 22 |
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5
8952990fcab9
Update to snpEff version 3.4 and add data managers to download snpEff genome reference databases
Jim Johnson <jj@umn.edu>
parents:
2
diff
changeset
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23 SnpSift citation: |
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8952990fcab9
Update to snpEff version 3.4 and add data managers to download snpEff genome reference databases
Jim Johnson <jj@umn.edu>
parents:
2
diff
changeset
|
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. |
