|
0
|
1 SnpEff wrappers
|
|
|
2 ===============
|
|
|
3
|
|
|
4 These are galaxy tools for SnpEff_, a variant annotation and effect prediction tool by Pablo Cingolani.
|
|
|
5 It annotates and predicts the effects of variants on genes (such as amino acid changes).
|
|
|
6
|
|
|
7 .. _SnpEff: http://snpeff.sourceforge.net/
|
|
|
8
|
|
2
|
9
|
|
0
|
10 This repository let you automatically install SnpEff and SnpSift.
|
|
|
11 This will use the default location for genome reference downloads from the ``snpEff.config`` file:
|
|
|
12
|
|
|
13 data_dir = ~/snpEff/data/
|
|
|
14
|
|
|
15 You can manually edit the installed ``snpEff.config`` file and change the location, or you can create a symbolic link to the desired data location from ``~/snpEff``.
|
|
|
16
|
|
|
17 The genome reference options used by the tools "SnpEff" (snpEff.xml) and "SnpEff Download" (snpEff_download.xml) are taken from the ``tool-data/snpeffect_genomedb.loc`` file.
|
|
|
18 You can fill this file by running the following command:
|
|
|
19
|
|
|
20 java -jar snpEff.jar databases | tail -n +3 | cut -f 1,2 | awk '{ gsub(/_/, " ", $2); printf "%s\\t%s : %s\\n", $1, $2, $1 }' | sort -k 2 > snpeffect_genomedb.loc
|
|
|
21
|
|
|
22 There are 2 datamanagers to download and install prebuilt SnpEff genome databases:
|
|
|
23
|
|
|
24 * data_manager_snpeff_databases: generates a list of available SnpEff genome databases into the ``tool-data/snpeff_databases.loc`` file
|
|
|
25 * 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`` and ``snpeff_annotations.loc``
|
|
|
26
|
|
|
27 SnpEff citation: |Cingolani2012program|_.
|
|
|
28
|
|
|
29 .. |Cingolani2012program| replace:: Cingolani, P., Platts, A., Wang, L. L., Coon, M., Nguyen, T., Wang, L., Land, S. J., Lu, X., Ruden, D. M. (2012) 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. *Fly* 6(2):80-92
|
|
|
30 .. _Cingolani2012program: https://www.landesbioscience.com/journals/fly/article/19695/
|
|
|
31
|
|
|
32 SnpSift citation: |Cingolani2012using|_.
|
|
|
33
|
|
|
34 .. |Cingolani2012using| replace:: Cingolani, P., Patel, V. M., Coon, M., Nguyen, T., Land, S. J., Ruden, D. M., Lu, X. (2012) Using *Drosophila melanogaster* as a model for genotoxic chemical mutational studies with a new program, SnpSift. *Front. Genet.* 3:35
|
|
|
35 .. _Cingolani2012using: http://journal.frontiersin.org/Journal/10.3389/fgene.2012.00035/
|
|
|
36
|
|
|
37 Wrapper authors: Jim Johnson
|
|
|
38
|
