paolaroncaglia
commented
4 years ago Update: Mondo updated their OMIM ingest (monarch-initiative/mondo#1283). We may now
- [ ] Retrieve all OMIM IDs submitted by UniProtKB and mapped broadly in EFO, and see if there are new, exact matches in Mondo that we could import instead (and remove the broad mappings from EFO).
(I'd suggest putting this in Icebox for now)
UniProtKB monthly releases often involve requests to map OMIM entries to classes in EFO (be them EFO or imported Mondo terms). The mappings are then available for Open Targets to use. (E.g. https://github.com/EBISPOT/efo/issues/738) In some cases, we map OMIM entries broadly to less granular or grouping terms, aiming at a balance between precision and ontology inflation. Mondo is planning an update of their OMIM ingest (https://github.com/monarch-initiative/mondo/issues/1283). Making a note here that when that's done, we may want to retrieve all OMIM IDs submitted by UniProtKB and mapped broadly in EFO, and see if there are new, exact matches in Mondo that we could import instead (and remove the broad mappings from EFO).