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

Create naive variation search #7

Open
2 tasks
jsstevenson opened this issue Sep 5, 2024 · 2 comments
Open
2 tasks

Create naive variation search #7

jsstevenson opened this issue Sep 5, 2024 · 2 comments
Assignees
Labels
requirement Required

Comments

@jsstevenson
Copy link
Member

jsstevenson commented Sep 5, 2024

Index VRS IDs for called variants to participant_id

  • Define workflow to gather all annotated VCFs and produce some index/output
  • Decide on the format of that index (literal index file, DB upload callback, etc)

Just a literal index file is technically a redundant intermediary step, but does afford some freedom to experiment with outputs. A DB callback might be better although we need to be forward thinking about things like schema.

@jsstevenson jsstevenson added the requirement Required label Sep 9, 2024
@jsstevenson
Copy link
Member Author

  • How to handle position searches when a ref/alt is of length > 1?
  • How to handle position searches on indels?

@ahwagner
Copy link
Member

ahwagner commented Sep 11, 2024

We want to be able to retrieve all patients with a given variant, specified by VRS ID. I expect we can leverage VRS computed identifiers for rapid querying on an index (existing wherever–parquet, flat file, GREGoR-maintained db, etc.).

At the GREGoR conference this week, I will ask Ben and Marsha about the GREGoR variants browser and if there is a backend and API we may use.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
requirement Required
Projects
None yet
Development

No branches or pull requests

2 participants