Closed tskir closed 6 months ago
Investigated both questions and replied in the community thread. The first issue is indeed due to ClinVar having very nonspecific (essentially meaningless) terms; the second is due to EFO version sync — the term is very new (EFO v3.60.0) and so wasn't picked up by the ETL, which used EFO v3.58.0.
On that second point, I was wondering if we could review our release preparation processes. While the release was done in December, the EFO version we ended up using (v3.58.0) was released in September. A three month lag isn't terrible, but I think it would certainly be improved.
CC @d0choa @ireneisdoomed @DSuveges for information and potentially discussion.
cc @prashantuniyal02
Created from this community question: https://community.opentargets.org/t/genetic-disorder-of-clinvar-in-eva/1316
The user reports two issues: