Guide for annotating ENCODE regulatory variants with ClinVar clinical significance. Use when users need to check if variants in ENCODE peaks have clinical associations, find pathogenic variants in regulatory regions, or assess variant clinical impact. Trigger on: ClinVar, clinical significance, pathogenic variant, variant classification, clinical variant, disease variant, VUS, benign, likely pathogenic.
How to install clinvar-annotation?
ammawla/encode-toolkit/clinvar-annotation
$npx -y skills add ammawla/encode-toolkit --skill clinvar-annotationInstalls into the current project.
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Run `npx skills use "https://github.com/ammawla/encode-toolkit" --skill "ammawla/encode-toolkit/clinvar-annotation"` and follow the generated skill instructions now. Read its complete output, redirecting it to a temporary file first if necessary. Resolve relative paths from the supporting-files directory it provides.
Use the skills in "https://github.com/ammawla/encode-toolkit" that are relevant to the current task. Run `npx skills add "https://github.com/ammawla/encode-toolkit"` and select the relevant skills, then follow their instructions.
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