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clinvar-database

8.7

by davila7

149Favorites
336Upvotes
0Downvotes

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.

genomics

8.7

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0

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Data & Analytics

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Quick Review

Exceptional skill with comprehensive coverage of ClinVar querying, interpretation, and analysis. The description clearly articulates capabilities enabling CLI agents to invoke appropriate functions. Task knowledge is excellent with detailed API usage, file processing examples, and complete workflows. Structure is very good with logical organization and proper delegation to reference files. Novelty is strong—ClinVar's complex clinical significance interpretations, multi-format data handling, and conflicting evidence resolution would require significant tokens for a CLI agent to handle independently. Minor improvement possible in visual organization for the extensive content, but overall this is a production-ready, highly valuable skill for genomic medicine applications.

LLM Signals

Description coverage10
Task knowledge10
Structure9
Novelty8

GitHub Signals

18,073
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Last commit 0 days ago

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davila7

davila7

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