EBIvariation / CMAT

ClinVar Mapping and Annotation Toolkit
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Develop and document curation process to import from MONDO/HP #388

Open tcezard opened 1 year ago

tcezard commented 1 year ago

When an exact term exist from MONDO or HP, we can import it directly to EFO. To do that we need to:

We can already se the manual curation filters to detect clinvar labels that have exact match in MONDO/HP and no detect good match (by ZOOMA) in EFO. We need to ensure that the ZOOMA search is sufficient to retrieve the existing EFO match. We need to check if we efficiently find the parent term in EFO