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

Support CIViC annotation for somatic mutations #4968

Open
muabnezor opened this issue Oct 18, 2024 · 3 comments
Open

Support CIViC annotation for somatic mutations #4968

muabnezor opened this issue Oct 18, 2024 · 3 comments
Assignees

Comments

@muabnezor
Copy link
Collaborator

CIViC (Clinical Interpretation of Variants in Cancer) is an open-access, community-driven resource for the clinical interpretation of cancer variants. To enhance Scout’s functionality for somatic variants, it would be beneficial to see this information in scout.

One way to achieve this would before loading the variants into scout annotate the vcf against the CIViC database, and add support in scout to load the relevant civic annotations into scout.

@dnil
Copy link
Collaborator

dnil commented Oct 18, 2024

If you have a VCF with CiViC annotations and a key for those this should be really simple and useful! Perfect!

Do they provide a VEP plugin or annotation track for use perhaps?

As I'm sure you know, Scout has a CiViC gene level linkout - that was the API level we were comfortable with last time this was on the table.

Screenshot 2024-10-18 at 15 29 59

@dnil
Copy link
Collaborator

dnil commented Oct 18, 2024

If their API has matured to allow confident variant lookups (eg using transcript qualifiers for aa changes) we can also make a variant level linkout, but I get the feeling this is still a bit rough around the edges?

@muabnezor
Copy link
Collaborator Author

Hi, no currently no vep plugin, so this is something that needs to be solved. I have started looking at this https://docs.civicpy.org/en/latest/, but have not yet tested it. But yes this will be a matter of first confidently annotate variants, before submitting loading them to scout.

@muabnezor muabnezor self-assigned this Oct 21, 2024
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Projects
None yet
Development

No branches or pull requests

2 participants