variant-annotation

variant-annotation is a Bioinformatics & life sciences skill for AI agents, published by ammawla in the encode-toolkit repository on GitHub. Skillspace rates variant-annotation D (65/100) and it passed the safety scan; the rating is based on static analysis only.

Annotate genetic variants (GWAS hits, eQTLs, rare variants) with ENCODE functional data to interpret non-coding variation. Use when the user has variants of interest and wants to understand their regulatory context, identify causal variants from GWAS loci, assess variant impact on regulatory elements, perform enrichment testing of variant sets in tissue-specific annotations, or link variants to target genes through enhancer-gene maps. Handles the full post-GWAS workflow from variant set → tissue mapping → functional annotation → fine-mapping awareness → enrichment → variant-to-gene → prioritization. Use this skill for ANY variant interpretation task involving ENCODE chromatin, accessibility, TF binding, or 3D genome data.

Grade
D
Quality
65 / 100
Safety
Passed
GitHub stars
37

Unproven: rated by static analysis only, not yet compared head-to-head.

This rating describes the version of the repository we crawled; it may have changed since, so go by its current files.

Our review

Architecture
83 / 100
Maturity
Structured: ships references or scripts
Security scan
No issues found
License
AGPL-3.0
Adoption
Adopted by 0 other repositories, in 1 collections

Not checked yet

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  • Not judged on the rubric yet (not a contender in its category)
  • No blind task eval yet
  • Scope (portable / vendor / repo-internal) not assessed; only the top of each category is read for scope
  • Sibling files (scripts, references) not fetched; security scan covers SKILL.md only

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