Mercurial > repos > saskia-hiltemann > annovar
annotate README~ @ 2:565c0e690238 draft
Added support for LJB2, COSMIC67, CLINVAR and NCI60.
Fixed dgv annotation to use new UCSC table dgvMerged instead.
author | saskia-hiltemann |
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date | Mon, 18 Nov 2013 10:32:33 -0500 |
parents | d3a72e55deca |
children |
rev | line source |
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0 | 1 ANNOVAR needs to be installed manually in the following way: |
2 | |
3 | |
4 1) If you already have ANNOVAR installed on your system, simply edit the tool-data/annovar.loc file to reflect locations of | |
5 the perl scripts (annotate_variation.pl and convert2annovar.pl) and humandb directory (directory containing the annovar database files) | |
6 1b) Restart galaxy instance for changes in .loc file to take effect | |
7 | |
8 | |
9 2) If you do not have ANNOVAR installed, request annovar download and sign license here: | |
10 http://www.openbioinformatics.org/annovar/annovar_download_form.php | |
11 | |
12 3) Once downloaded, install annovar per the installation instructions and edit annovar.loc file to reflect location of directory containing perl scripts. | |
13 tool uses annotate_variation.pl and convert2annovar.pl | |
14 | |
15 4) Then download all desired databases for all desired builds as follows: | |
16 annotate_variation.pl -downdb -buildver <build> [-webfrom annovar] <database> <humandb> | |
17 | |
18 where <humandb> is location where all database files should be stored | |
19 and <database> is the database file to download, e.g. refGene (see bottom of document for all available database files at the time of writing this tool) | |
20 and <build> can be hg18 or hg19 for humans, also other organisms available. | |
21 | |
22 list of all available databases can be found here: http://www.openbioinformatics.org/annovar/annovar_db.html | |
23 | |
24 5) edit the tool-data/annovar.loc file to reflect location of humandb folder | |
25 5b) restart galaxy instance for changes in .loc file to take effect | |
26 | |
27 6) Tool uses cgatools join for combining of files, this should be installed automatically with repository. If not, get a copy from Complete Genomics directly: | |
28 wget http://sourceforge.net/projects/cgatools/files/1.7.1/cgatools-1.7.1.5-linux_binary-x86_64.tar.gz | |
29 tar xvzf cgatools-1.7.1.5-linux_binary-x86_64.tar.gz | |
30 | |
31 and place the "cgatools" binary found in bin/ directory on your $PATH | |
32 | |
33 | |
34 list of files in my own humandb folder: | |
35 | |
36 hg18_ALL.sites.2012_04.txt | |
37 hg18_ALL.sites.2012_04.txt.idx | |
38 hg18_avsift.txt | |
39 hg18_avsift.txt.idx | |
40 hg18_CEU.sites.2010_07.txt | |
41 hg18_CEU.sites.2010_07.txt.idx | |
42 hg18_cg46.txt | |
43 hg18_cg46.txt.idx | |
44 hg18_cg69.txt | |
45 hg18_cg69.txt.idx | |
46 hg18_cytoBand.txt | |
47 hg18_dgv.txt | |
48 hg18_ensGeneMrna.fa | |
49 hg18_ensGene.txt | |
50 hg18_esp5400_aa.txt | |
51 hg18_esp5400_aa.txt.idx | |
52 hg18_esp5400_all.txt | |
53 hg18_esp5400_all.txt.idx | |
54 hg18_esp5400_ea.txt | |
55 hg18_esp5400_ea.txt.idx | |
56 hg18_esp6500_aa.txt | |
57 hg18_esp6500_aa.txt.idx | |
58 hg18_esp6500_all.txt | |
59 hg18_esp6500_all.txt.idx | |
60 hg18_esp6500_ea.txt | |
61 hg18_esp6500_ea.txt.idx | |
62 hg18_esp6500si_aa.txt | |
63 hg18_esp6500si_aa.txt.idx | |
64 hg18_esp6500si_all.txt | |
65 hg18_esp6500si_all.txt.idx | |
66 hg18_esp6500si_ea.txt | |
67 hg18_esp6500si_ea.txt.idx | |
68 hg18_example_db_generic.txt | |
69 hg18_example_db_gff3.txt | |
70 hg18_genomicSuperDups.txt | |
71 hg18_gerp++gt2.txt | |
72 hg18_gerp++gt2.txt.idx | |
73 hg18_gwasCatalog.txt | |
74 hg18_JPTCHB.sites.2010_07.txt | |
75 hg18_JPTCHB.sites.2010_07.txt.idx | |
76 hg18_keggMapDesc.txt | |
77 hg18_keggPathway.txt | |
78 hg18_kgXref.txt | |
79 hg18_knownGeneMrna.fa | |
80 hg18_knownGene.txt | |
81 hg18_ljb_all.txt | |
82 hg18_ljb_all.txt.idx | |
83 hg18_ljb_lrt.txt | |
84 hg18_ljb_lrt.txt.idx | |
85 hg18_ljb_mt.txt | |
86 hg18_ljb_mt.txt.idx | |
87 hg18_ljb_phylop.txt | |
88 hg18_ljb_phylop.txt.idx | |
89 hg18_ljb_pp2.txt | |
90 hg18_ljb_pp2.txt.idx | |
91 hg18_ljb_sift.txt | |
92 hg18_ljb_sift.txt.idx | |
93 hg18_phastConsElements44way.txt | |
94 hg18_refGeneMrna.fa | |
95 hg18_refGene.txt | |
96 hg18_refLink.txt | |
97 hg18_snp128NonFlagged.txt | |
98 hg18_snp128NonFlagged.txt.idx | |
99 hg18_snp128.txt | |
100 hg18_snp128.txt.idx | |
101 hg18_snp129NonFlagged.txt | |
102 hg18_snp129NonFlagged.txt.idx | |
103 hg18_snp129.txt | |
104 hg18_snp129.txt.idx | |
105 hg18_snp130NonFlagged.txt | |
106 hg18_snp130NonFlagged.txt.idx | |
107 hg18_snp130.txt | |
108 hg18_snp130.txt.idx | |
109 hg18_snp131NonFlagged.txt | |
110 hg18_snp131NonFlagged.txt.idx | |
111 hg18_snp131.txt | |
112 hg18_snp131.txt.idx | |
113 hg18_snp132NonFlagged.txt | |
114 hg18_snp132NonFlagged.txt.idx | |
115 hg18_snp132.txt | |
116 hg18_snp132.txt.idx | |
117 hg18_tfbsConsSites.txt | |
118 hg18_YRI.sites.2010_07.txt | |
119 hg18_YRI.sites.2010_07.txt.idx | |
120 hg19_AFR.sites.2012_04.txt | |
121 hg19_AFR.sites.2012_04.txt.idx | |
122 hg19_ALL.sites.2010_11.txt | |
123 hg19_ALL.sites.2010_11.txt.idx | |
124 hg19_ALL.sites.2012_02.txt | |
125 hg19_ALL.sites.2012_02.txt.idx | |
126 hg19_ALL.sites.2012_04.txt | |
127 hg19_ALL.sites.2012_04.txt.idx | |
128 hg19_AMR.sites.2012_04.txt | |
129 hg19_AMR.sites.2012_04.txt.idx | |
130 hg19_ASN.sites.2012_04.txt | |
131 hg19_ASN.sites.2012_04.txt.idx | |
132 hg19_avsift.txt | |
133 hg19_avsift.txt.idx | |
134 hg19_cg46.txt | |
135 hg19_cg46.txt.idx | |
136 hg19_cg69.txt | |
137 hg19_cg69.txt.idx | |
138 hg19_cosmic61.txt | |
139 hg19_cosmic61.txt.idx | |
140 hg19_cosmic63.txt | |
141 hg19_cosmic63.txt.idx | |
142 hg19_cosmic64.txt | |
143 hg19_cosmic64.txt.idx | |
2
565c0e690238
Added support for LJB2, COSMIC67, CLINVAR and NCI60.
saskia-hiltemann
parents:
0
diff
changeset
|
144 hg19_cosmic65.txt |
565c0e690238
Added support for LJB2, COSMIC67, CLINVAR and NCI60.
saskia-hiltemann
parents:
0
diff
changeset
|
145 hg19_cosmic65.txt.idx |
0 | 146 hg19_cytoBand.txt |
147 hg19_dgv.txt | |
148 hg19_ensGeneMrna.fa | |
149 hg19_ensGene.txt | |
150 hg19_esp5400_aa.txt | |
151 hg19_esp5400_aa.txt.idx | |
152 hg19_esp5400_all.txt | |
153 hg19_esp5400_all.txt.idx | |
154 hg19_esp5400_ea.txt | |
155 hg19_esp5400_ea.txt.idx | |
156 hg19_esp6500_aa.txt | |
157 hg19_esp6500_aa.txt.idx | |
158 hg19_esp6500_all.txt | |
159 hg19_esp6500_all.txt.idx | |
160 hg19_esp6500_ea.txt | |
161 hg19_esp6500_ea.txt.idx | |
162 hg19_esp6500si_aa.txt | |
163 hg19_esp6500si_aa.txt.idx | |
164 hg19_esp6500si_all.txt | |
165 hg19_esp6500si_all.txt.idx | |
166 hg19_esp6500si_ea.txt | |
167 hg19_esp6500si_ea.txt.idx | |
168 hg19_EUR.sites.2012_04.txt | |
169 hg19_EUR.sites.2012_04.txt.idx | |
170 hg19_genomicSuperDups.txt | |
171 hg19_gerp++gt2.txt | |
172 hg19_gerp++gt2.txt.idx | |
173 hg19_gwasCatalog.txt | |
174 hg19_keggMapDesc.txt | |
175 hg19_keggPathway.txt | |
176 hg19_kgXref.txt | |
177 hg19_knownGeneMrna.fa | |
178 hg19_knownGene.txt | |
179 hg19_ljb_all.txt | |
180 hg19_ljb_all.txt.idx | |
181 hg19_ljb_lrt.txt | |
182 hg19_ljb_lrt.txt.idx | |
183 hg19_ljb_mt.txt | |
184 hg19_ljb_mt.txt.idx | |
185 hg19_ljb_phylop.txt | |
186 hg19_ljb_phylop.txt.idx | |
187 hg19_ljb_pp2.txt | |
188 hg19_ljb_pp2.txt.idx | |
189 hg19_ljb_sift.txt | |
190 hg19_ljb_sift.txt.idx | |
191 hg19_phastConsElements46way.txt | |
192 hg19_refGeneMrna.fa | |
193 hg19_refGene.txt | |
194 hg19_refLink.txt | |
195 hg19_snp130NonFlagged.txt | |
196 hg19_snp130NonFlagged.txt.idx | |
197 hg19_snp130.txt | |
198 hg19_snp130.txt.idx | |
199 hg19_snp131NonFlagged.txt | |
200 hg19_snp131NonFlagged.txt.idx | |
201 hg19_snp131.txt | |
202 hg19_snp132NonFlagged.txt | |
203 hg19_snp132NonFlagged.txt.idx | |
204 hg19_snp132.txt | |
205 hg19_snp132.txt.idx | |
206 hg19_snp135NonFlagged.txt | |
207 hg19_snp135NonFlagged.txt.idx | |
208 hg19_snp135.txt | |
209 hg19_snp137NonFlagged.txt | |
210 hg19_snp137NonFlagged.txt.idx | |
211 hg19_snp137.txt | |
212 hg19_tfbsConsSites.txt | |
213 |