EBIvariation / CMAT

ClinVar Mapping and Annotation Toolkit
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Manual curation for 2023.09 release #395

Closed apriltuesday closed 11 months ago

apriltuesday commented 1 year ago

Refer to documentation for full description of steps.

Minimal curation round to update to OLS4 (i.e. more recent version of EFO).

Checklist:

apriltuesday commented 1 year ago

@tcezard @M-casado Spreadsheet ready here.

M-casado commented 1 year ago

@tcezard & @apriltuesday, I finished today's round of curation. See summary in the sankiest way below:

DONE - 1
UNSURE - 3
NEW - 1
IMPORT - 773 --> Copy-pasted from exact, and additionally checked all that were not HIGH confidence, and checked half of them in EFO to see if there was an existing one there already.
    - Changed from previous mapping (4): 
        - 1 to IMPORT that was mapped wrong (type 5 instead of 6)
        - 2 to IMPORT that was already used in CMAT, but:
            - 1 Apparently not imported
            - 1 Mapped to a parent type and not subtype
        - 1 who was obsolete, turned to UNSURE, and then I added to import after finding a good match

sankeymatic_20230725_174741_1200x656

apriltuesday commented 1 year ago

Wow, so sankey... :star_struck:

I did a small review of the UNSURE terms, changed one to NEW but I think we might skip the others this round.

I'll do the export and prepare the "Add EFO disease" sheet, but we'll hold off on providing the feedback to EFO till we can have a conversation with SPOT about expectations for the import.

apriltuesday commented 11 months ago

Feedback done as part of #401