EBIvariation / CMAT

ClinVar Mapping and Annotation Toolkit
Apache License 2.0
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Manual curation fixes from October #402

Closed apriltuesday closed 5 months ago

apriltuesday commented 9 months ago

Code updates:

Documentation updates for step 2:

apriltuesday commented 5 months ago

Exact matches - Check why exact matches in MONDO are not being always being reported

I don't actually see an example of this as an IMPORT in the October spreadsheet, double check with the team.

Think about how to handle terms we know we can't map but are still meaningful terms, e.g. caused by mutation in the tbc1 domain family, member 24

This probably needs its own ticket and discussion, not addressing for Jan - #413 .