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clinvar-database

8.3

by K-Dense-AI

61Favorites
275Upvotes
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

8.3

Rating

0

Installs

Data & Analytics

Category

Quick Review

Excellent genomic data skill with comprehensive coverage of ClinVar database access and interpretation. The SKILL.md provides clear, actionable guidance for querying variants, interpreting clinical significance, accessing data via multiple methods (API, FTP, web), and processing various file formats. Task knowledge is outstanding with concrete code examples in bash, Python, and bcftools across multiple real-world workflows. Structure is well-organized with logical sections and appropriate delegation of detailed reference material to separate files. The skill addresses a genuinely complex domain (genomic variant interpretation) that would require extensive API documentation lookup, format understanding, and domain knowledge if tackled by a CLI agent alone. Minor deduction from perfect score: while the description mentions VCF annotation, the full complexity of clinical variant interpretation workflows could be slightly more emphasized in the brief description to fully capture the skill's scope.

LLM Signals

Description coverage9
Task knowledge10
Structure9
Novelty8

GitHub Signals

6,871
818
49
3
Last commit 1 days ago

Publisher

K-Dense-AI

K-Dense-AI

Skill Author

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Publisher

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K-Dense-AI

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