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clinvar-database

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.

View source: robinbarvaag/poynt ↗

Install from source

Install using Skill Manager:

sk install https://github.com/robinbarvaag/poynt/tree/main/.github/skills/clinvar-database/SKILL.md

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Exact Markdown body copies across 5 repositories. This count does not identify the original author.

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