Fixing text/null variants that should have been otherwise - Githubissues

clingen-data-model / genegraph

Presents an RDF triplestore of gene information using GraphQL APIs

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Fixing text/null variants that should have been otherwise #771

Closed theferrit32 closed 4 months ago

theferrit32 commented 1 year ago

There were previously some CNVs that should have been normalized to CNV instead of Text given current capabilities of the normalization service.

Some will remain as Text until these are resolved:

definite range CopyNumberCounts
- https://github.com/clingen-data-model/genegraph/issues/707
copy numbers with one endpoint being a range and the other being a number
- https://github.com/cancervariants/variation-normalization/issues/417

Resolves https://github.com/clingen-data-model/genegraph/issues/748

Touches https://github.com/clingen-data-model/genegraph/issues/698

theferrit32 commented 4 months ago

Closing as Obsolete. We have extracted the variation transformation code into a separate repo here: https://github.com/clingen-data-model/clinvar-gk-pilot

When we come back to this we can take a look at if any code can be lifted over, but I think we want to minimize interaction with the normalization service and instead go through the native python library.