clingen-data-model / curator

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Obtain VRS representation of variant data from MetaKB variant normalization service #46

Closed toneillbroad closed 2 years ago

toneillbroad commented 3 years ago

The Clinvar VCV streaming work being done for Kevin R. at Baylor needs to include the GA4GH Variant Representation Specification (VRS) representation of the variant in the stream. This representation will be obtained from the MetaKB variant normalization service.

https://normalize.cancervariants.org/variation

https://docs.google.com/presentation/d/1TqiQ_ZeU1a92aFswa0OM3Q62kxzN4Hrk1U3FRBFHm_k/edit?usp=sharing

https://docs.google.com/presentation/d/1TqiQ_ZeU1a92aFswa0OM3Q62kxzN4Hrk1U3FRBFHm_k/edit?usp=sharing

https://github.com/cancervariants

The service currently doesn't handle all representations. And at a minimum it will need to handle a default fallback text representation.

KelseaChang5 commented 2 years ago

December 7th 2021 Triage: @larrybabb to rework ticket