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EBIvariation / CMAT

ClinVar Mapping and Annotation Toolkit
Apache License 2.0
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Issue 435: Filter gene-related disorder submission from curation and evidence generation #443

Closed apriltuesday closed 2 months ago

apriltuesday commented 2 months ago

Closes #435

apriltuesday commented 2 months ago

I'm running a test spreadsheet creation to check the output, but meanwhile the code can be reviewed.

apriltuesday commented 2 months ago

Spreadsheet from the test is here. The gene-related disorder terms are certainly not gone (though there are about 2000 fewer terms total compared to July), but their frequency in ClinVar is much reduced so they are deprioritised. I spot-checked a couple terms to make sure they were indeed present in other submissions besides the one filtered out.