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Issue 435: Filter gene-related disorder submission from curation and evidence generation #443

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merged 3 commits into from
Sep 9, 2024

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apriltuesday
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@apriltuesday apriltuesday commented Sep 5, 2024

Closes #435

@apriltuesday apriltuesday changed the title Issue 435 2 Issue 435: Filter gene-related disorder submission from curation and evidence generation Sep 5, 2024
@apriltuesday apriltuesday requested a review from tcezard September 5, 2024 14:43
@apriltuesday apriltuesday self-assigned this Sep 5, 2024
@apriltuesday apriltuesday marked this pull request as ready for review September 5, 2024 14:43
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I'm running a test spreadsheet creation to check the output, but meanwhile the code can be reviewed.

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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.

@apriltuesday apriltuesday merged commit 269479e into EBIvariation:master Sep 9, 2024
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@apriltuesday apriltuesday deleted the issue-435_2 branch September 9, 2024 12:55
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Filter generic gene-related condition terms from manual curation and evidence string generation
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