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

Fix vrs schema link #190

Merged
merged 14 commits into from
Dec 12, 2024
Merged

Fix vrs schema link #190

merged 14 commits into from
Dec 12, 2024

Conversation

costero-e
Copy link
Collaborator

This PR is to add all the VRS link updates work we have done in #186.

mbaudis and others added 14 commits June 17, 2023 17:42
The parameter descriptions in the EntryTypeDefinitions schema seem somewhat hard to parse and potentially misleading - this is a go at cleaning them up a bit.
It is not clear how to use ontologyTermForThisType w/o examples (i.e. terms for biosample, individual... - added some but incomplete...) and there is also a logical duplication having a "unique" id and an ontology term. Overall this should be clarified but the current modification seems (a) sensible (step).
for templates the format must be "uri-template".
The Beacon schema for genomic allows 3 options:

* VRS MolecularVariation
* VRS SystemicVariation
* Beacon LegacyVariation (which adopts the VRS location object but uses separate definitions otherwise)

Unfortunately, during Beacon v2 approval only VRS 1.2. was available and then explicitly referenced in the schema. It fast superseded by 1.3 which allows a *much* better definition of "Systemic Variations" such as CNV.

This PR changes all VRS references from 1.2 => 1.3 and should be very welcome to implementers (1.3. has been the longstanding standard now until the future 2.x is out; in fact, the `bycon` based implementations such as progenetix.org have been using it for their Beacons for ~2years).
The `beacon_yaml2md.pl` doc generator contains hard coded definitions to VRS 1.2 `CopyNumber` which doesn't exist in 1.3.

This should be fixed separately, possibly w/ revision of the schema documentation method/engine.
@costero-e costero-e merged commit 0602454 into schema-urgent-fixes Dec 12, 2024
1 check passed
@costero-e costero-e deleted the fix-vrs-schema-link branch December 13, 2024 08:47
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.

5 participants