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

Implement Location class to store symbolic genes and gene regions #201

Closed
reece opened this issue Jun 24, 2020 · 5 comments
Closed

Implement Location class to store symbolic genes and gene regions #201

reece opened this issue Jun 24, 2020 · 5 comments
Labels
Requirements issue for gathering technical requirements Stale See .github/workflows/stale.yml

Comments

@reece
Copy link
Member

reece commented Jun 24, 2020

Split GeneLocation proposal from #181 into separate feature.

@ahwagner ahwagner added the Requirements issue for gathering technical requirements label Aug 19, 2020
@reece
Copy link
Member Author

reece commented Aug 24, 2020

Use case
Provide a symbolic reference to a gene to be used as (with the role of) a Location. For example, "PTEN deletion" or "VHL, 3 copies".

Consideration should also be given to converting symbolic gene locations onto sequence coordinates, how this might happen, and whether such a transformation is required. (Without this, queries like "identify variation within a gene" would be impossible.)

@reece
Copy link
Member Author

reece commented Aug 24, 2020

Naming Consideration
Current Location subclasses are locations within that coordinate system. For example, SequenceLocation is a location on a Sequence (as coordinate system), not the location of a sequence.

We have been calling the proposed class a "GeneLocation". Under the current naming pattern, this would imply locations on
Gene. However, it's much more challenging to contemplate the addressable components of a gene.

@ahwagner
Copy link
Member

Use cases

Concrete examples of the symbolic reference use case described by @reece above.

Gene-specified fusions

Gene-specified CNAs

Gene-specified expression variants

Gene region-specified alterations

Gene wild type variants

Other categorical gene variants

@sarahhunt
Copy link

sarahhunt commented Aug 24, 2020

These seem more like definitions of sets of variants, rather than locations.
We have a similar thing in G2P where we seek HMX1 "loss of function", variants

@github-actions
Copy link

This issue was marked stale due to inactivity.

@github-actions github-actions bot added the Stale See .github/workflows/stale.yml label Oct 24, 2020
@github-actions github-actions bot closed this as completed Nov 8, 2020
@reece reece reopened this Jan 23, 2021
@reece reece closed this as completed Jan 23, 2021
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
Requirements issue for gathering technical requirements Stale See .github/workflows/stale.yml
Projects
None yet
Development

No branches or pull requests

3 participants