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 option to take a whitelist of variants #469

Closed
jemten opened this issue Jan 9, 2024 · 2 comments
Closed

Add option to take a whitelist of variants #469

jemten opened this issue Jan 9, 2024 · 2 comments
Assignees
Labels
enhancement Improvement for existing functionality

Comments

@jemten
Copy link
Collaborator

jemten commented Jan 9, 2024

Description of feature

Right now we have the option of filtering the vcf to remove common mutations as they are very unlikely to cause a rare disease. However, some mutations are quite common and can still cause serious effects, one such example is founder mutations. It would be useful to be able to provide a vcf with variants that should never be filtered, i.e. a whitelist. These variants should then be rescued from the filtering happening here

BCFTOOLS_VIEW(ZIP_TABIX_VCFANNO.out.gz_tbi, [], [], []) // filter on frequencies

@jemten jemten added the enhancement Improvement for existing functionality label Jan 9, 2024
@jemten jemten self-assigned this Jan 10, 2024
@ramprasadn
Copy link
Collaborator

This is managed variants, right @jemten?

@jemten
Copy link
Collaborator Author

jemten commented Sep 19, 2024

Exactly! Will close the issue since it has been implemented

@jemten jemten closed this as completed Sep 19, 2024
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
enhancement Improvement for existing functionality
Projects
None yet
Development

No branches or pull requests

2 participants