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biopet.biopet
Commits
745b2d24
Commit
745b2d24
authored
Mar 03, 2016
by
Sander Bollen
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add test for vep stats
parent
dcdcb3b5
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public/biopet-extensions/src/test/resources/vep.metrics
public/biopet-extensions/src/test/resources/vep.metrics
+349
-0
public/biopet-extensions/src/test/scala/nl/lumc/sasc/biopet/extensions/VariantEffectPredictorTest.scala
...c/sasc/biopet/extensions/VariantEffectPredictorTest.scala
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public/biopet-extensions/src/test/resources/vep.metrics
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View file @
745b2d24
[VEP run statistics]
VEP version (API) 77 (77)
Cache/Database /usr/local/Genomes/H.Sapiens/hg19/vep_cache_75/homo_sapiens/75
Species homo_sapiens
Command line options -i test.vcf -o test.vep.vcf -v --everything --stats_text --cache --vcf --allow_non_variant --species homo_sapiens --dir /usr/local/Genomes/H.Sapiens/hg19/vep_cache_75 --fasta /usr/local/Genomes/H.Sapiens/hg19/vep_cache_75/Homo_sapiens.GRCh37.75.dna.primary_assembly.fa --fork 2 --cache_version 75 --db_version 75 --failed 1 --offline
Start time 2016-03-03 14:37:44
End time 2016-03-03 14:37:54
Run time 10 seconds
Input file (format) test.vcf (VCF)
Output file test.vep.vcf [text]
[General statistics]
Lines of input read 1000
Variants processed 874
Variants remaining after filtering 874
Lines of output written 874
Novel / existing variants 105 (12.0%) / 769 (88.0%)
Overlapped genes 132
Overlapped transcripts 661
Overlapped regulatory features 164
[Variant classes]
insertion 29
deletion 51
SNV 794
[Consequences (most severe)]
splice_donor_variant 3
frameshift_variant 1
inframe_insertion 2
inframe_deletion 1
missense_variant 39
splice_region_variant 11
synonymous_variant 46
5_prime_UTR_variant 19
3_prime_UTR_variant 36
non_coding_transcript_exon_variant 95
intron_variant 518
upstream_gene_variant 48
downstream_gene_variant 27
intergenic_variant 28
[Consequences (all)]
splice_donor_variant 6
frameshift_variant 2
inframe_insertion 15
inframe_deletion 6
missense_variant 101
splice_region_variant 60
synonymous_variant 173
coding_sequence_variant 1
5_prime_UTR_variant 33
3_prime_UTR_variant 108
non_coding_transcript_exon_variant 279
intron_variant 3311
NMD_transcript_variant 437
non_coding_transcript_variant 1102
upstream_gene_variant 1486
downstream_gene_variant 1779
TF_binding_site_variant 12
feature_elongation 97
regulatory_region_variant 253
feature_truncation 278
intergenic_variant 28
[Coding consequences]
frameshift_variant 2
inframe_insertion 15
inframe_deletion 6
missense_variant 101
synonymous_variant 173
coding_sequence_variant 1
[SIFT summary]
deleterious 22
tolerated 76
[PolyPhen summary]
possibly damaging 7
unknown 12
probably damaging 12
benign 70
[Variants by chromosome]
1 874
[Distribution of variants on chromosome 1]
0 225
1 407
2 242
3 0
4 0
5 0
6 0
7 0
8 0
9 0
10 0
11 0
12 0
13 0
14 0
15 0
16 0
17 0
18 0
19 0
20 0
21 0
22 0
23 0
24 0
25 0
26 0
27 0
28 0
29 0
30 0
31 0
32 0
33 0
34 0
35 0
36 0
37 0
38 0
39 0
40 0
41 0
42 0
43 0
44 0
45 0
46 0
47 0
48 0
49 0
50 0
51 0
52 0
53 0
54 0
55 0
56 0
57 0
58 0
59 0
60 0
61 0
62 0
63 0
64 0
65 0
66 0
67 0
68 0
69 0
70 0
71 0
72 0
73 0
74 0
75 0
76 0
77 0
78 0
79 0
80 0
81 0
82 0
83 0
84 0
85 0
86 0
87 0
88 0
89 0
90 0
91 0
92 0
93 0
94 0
95 0
96 0
97 0
98 0
99 0
100 0
101 0
102 0
103 0
104 0
105 0
106 0
107 0
108 0
109 0
110 0
111 0
112 0
113 0
114 0
115 0
116 0
117 0
118 0
119 0
120 0
121 0
122 0
123 0
124 0
125 0
126 0
127 0
128 0
129 0
130 0
131 0
132 0
133 0
134 0
135 0
136 0
137 0
138 0
139 0
140 0
141 0
142 0
143 0
144 0
145 0
146 0
147 0
148 0
149 0
150 0
151 0
152 0
153 0
154 0
155 0
156 0
157 0
158 0
159 0
160 0
161 0
162 0
163 0
164 0
165 0
166 0
167 0
168 0
169 0
170 0
171 0
172 0
173 0
174 0
175 0
176 0
177 0
178 0
179 0
180 0
181 0
182 0
183 0
184 0
185 0
186 0
187 0
188 0
189 0
190 0
191 0
192 0
193 0
194 0
195 0
196 0
197 0
198 0
199 0
200 0
201 0
202 0
203 0
204 0
205 0
206 0
207 0
208 0
209 0
210 0
211 0
212 0
213 0
214 0
215 0
216 0
217 0
218 0
219 0
220 0
221 0
222 0
223 0
224 0
225 0
226 0
227 0
228 0
229 0
230 0
231 0
232 0
233 0
234 0
235 0
236 0
237 0
238 0
239 0
240 0
241 0
242 0
243 0
244 0
245 0
246 0
247 0
248 0
249 0
[Position in protein]
00-10% 29
10-20% 63
20-30% 34
30-40% 20
40-50% 23
50-60% 25
60-70% 31
70-80% 11
80-90% 32
90-100% 30
public/biopet-extensions/src/test/scala/nl/lumc/sasc/biopet/extensions/VariantEffectPredictorTest.scala
0 → 100644
View file @
745b2d24
package
nl.lumc.sasc.biopet.extensions
import
java.io.File
import
java.nio.file.Paths
import
org.scalatest.Matchers
import
org.scalatest.testng.TestNGSuite
import
org.testng.annotations.Test
/**
* Created by ahbbollen on 3-3-16.
*/
class
VariantEffectPredictorTest
extends
TestNGSuite
with
Matchers
{
@Test
def
testSummaryStats
=
{
val
file
=
new
File
(
Paths
.
get
(
getClass
.
getResource
(
"/vep.metrics"
).
toURI
).
toString
)
val
vep
=
new
VariantEffectPredictor
(
null
)
val
stats
=
vep
.
parseStatsFile
(
file
)
stats
.
contains
(
"VEP_run_statistics"
)
shouldBe
true
stats
.
contains
(
"General_statistics"
)
shouldBe
true
stats
.
contains
(
"Consequences_(most_severe)"
)
shouldBe
true
stats
.
contains
(
"Consequences_(all)"
)
shouldBe
true
stats
.
contains
(
"Coding_consequences"
)
shouldBe
true
stats
.
contains
(
"SIFT_summary"
)
shouldBe
true
stats
.
contains
(
"PolyPhen_summary"
)
shouldBe
true
stats
.
contains
(
"Variants_by_chromosome"
)
shouldBe
true
stats
.
contains
(
"Distribution_of_variants_on_chromosome_1"
)
shouldBe
true
stats
.
contains
(
"Position_in_protein"
)
shouldBe
true
}
}
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