Skip to content

Commit f0a0cdb

Browse files
authored
Update README.md
1 parent 3de0510 commit f0a0cdb

File tree

1 file changed

+30
-0
lines changed

1 file changed

+30
-0
lines changed

README.md

Lines changed: 30 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -37,6 +37,8 @@ Clone and install regtools by running the following:
3737
make
3838
```
3939

40+
Installation should take 1-5 minutes.
41+
4042
For convienience we also maintain a docker image available at [https://hub.docker.com/r/griffithlab/regtools/](https://hub.docker.com/r/griffithlab/regtools/)
4143

4244
## Usage:
@@ -45,6 +47,34 @@ For convienience we also maintain a docker image available at [https://hub.docke
4547
regtools --help
4648
```
4749

50+
If one wishes to test their installation, we include test data under `test_data`.
51+
52+
Here's an example command using that data along with the example output. This should run in under a minute.
53+
54+
```sh
55+
regtools cis-splice-effects identify -s RF -e 10 -i 10 test_data/HCC1395_chr22.vcf.gz test_data/HCC1395_tumor.bam test_data/chr22_with_ERCC92.fa test_data/chr22_with_ERCC92.gtf
56+
57+
Variant 22 42129188 42129189 -1
58+
Variant region is 22:42128784-42130813
59+
60+
chrom start end name score strand splice_site acceptors_skipped exons_skipped donors_skipped anchor known_donor known_acceptor known_junction gene_names gene_ids transcripts variant_info
61+
position = 22:42125408-42125409
62+
position = 22:42130565-42130566
63+
22 42125407 42130567 JUNC00000001 4 + GT-AG 0 0 0 D 1 0 0 NDUFA6-AS1 ENSG00000237037 ENST00000439129 22:42129188-42129189
64+
position = 22:42128881-42128882
65+
position = 22:42129670-42129671
66+
22 42128880 42129672 JUNC00000002 3 + GT-AG 0 0 0 N 0 0 0 NA NA NA 22:42129188-42129189
67+
position = 22:42128944-42128945
68+
position = 22:42129031-42129032
69+
22 42128943 42129033 JUNC00000003 4 - GT-GG 1 0 0 D 1 0 0 CYP2D6 ENSG00000100197 ENST00000360608,ENST00000389970,ENST00000488442 22:42129188-42129189
70+
position = 22:42129783-42129784
71+
position = 22:42143453-42143454
72+
22 42129782 42143455 JUNC00000004 2 + GC-AG 9 8 9 N 0 0 0 NA NA NA 22:42129188-42129189
73+
position = 22:42130224-42130225
74+
position = 22:42130565-42130566
75+
22 42130223 42130567 JUNC00000005 2 + GT-AG 0 0 0 N 0 0 0 NA NA NA 22:42129188-42129189
76+
```
77+
4878
## Contribute
4979

5080
- Issue Tracker: github.com/griffithlab/regtools/issues

0 commit comments

Comments
 (0)