Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Add Paralogues plugin to web VEP (e113) #828

Merged
merged 3 commits into from
Sep 10, 2024

Conversation

nuno-agostinho
Copy link
Contributor

ENSVAR-6290

Testing

Test in my sandbox:

In web VEP, you can test with the following variants (not all chromosomes are available in my sandbox):

1 18108132 . A T
11 99556218 . G C
19 110682 . T G
20 87737 . C G
20 325925 . A T
22 15528369 . T G
22 15528390 . T G
22 15528213 . A C
22 15528195 . T G
X 630901 . A T
X 630907 . T C
X 1190999 . T C

Copy link
Contributor

@nakib103 nakib103 left a comment

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Looks good !~ thanks @nuno-agostinho

@@ -158,4 +158,11 @@
"file=[[ENSEMBL_VEP_PLUGIN_DATA_DIR]]/ClinPred/ClinPred_hg38_sorted_tabbed.tsv.gz"
]
},
Paralogues => {
"params" => [
"matches=[[ENSEMBL_VEP_PLUGIN_DATA_DIR]]/Paralogues/Paralogues.pm_homo_sapiens_113_ClinVar_20240819.tsv.gz",
Copy link
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

@nuno-agostinho Is this file already available?

Copy link
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Hi @imransl,

yes, the Paralogues plugin data should have been handed over for e113 -

$ ls /nfs/production/flicek/ensembl/variation/enseweb-data_tools/grch38/e113/vep/plugin_data/Paralogues/
Paralogues.pm_homo_sapiens_113_ClinVar_20240819.tsv.gz  Paralogues.pm_homo_sapiens_113_ClinVar_20240819.tsv.gz.tbi

Copy link
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

@nakib103 Okay I can see it there now, but it has been added well after we had finished the syncing. Please let us know when new files like these become available again to sync them to the live directories.

Copy link
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

@imransl, yeah it was supposed to go in for e114 but we then added a bit earlier. I think it got lost in the process to let web team know about the new data. Sorry about that!

Copy link
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

No problem. The directories have been synced now, so I will merge this PR.

Copy link
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

thanks @imransl!

@imransl imransl merged commit 3a3fcd0 into Ensembl:main Sep 10, 2024
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

Successfully merging this pull request may close these issues.

3 participants