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Created ClinVar.pm #761

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SAADAT-Abu
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Plugin to annotate variants using data from the ClinVar database.

Plugin to annotate variants using data from the ClinVar database.
@olaaustine olaaustine requested a review from dglemos January 7, 2025 15:13
@dglemos dglemos self-assigned this Jan 7, 2025
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dglemos commented Jan 7, 2025

Hi @SAADAT-Abu,

Thank you so much for taking the time to contribute to VEP! We truly value contributions from the community, as they help make our tool better for everyone.

I noticed that the plugin you've implemented is quite similar to a feature we already provide. In VEP, you can integrate custom annotations from standard format files into your results using the --custom flag. VCF is one of the supported formats.

We provide a specific example for integrating ClinVar VCF files, which you can read more about here:
https://www.ensembl.org/info/docs/tools/vep/script/vep_custom.html#custom_example

Do you think this existing custom flag could address the requirements of your use case?

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