Individual skill
variant-annotation
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.
skills/variant-annotation/SKILL.md
Source commit 36836c8725fd4d20d9c851ce314f5151aea5f57c
What was checked
- Matches the observed repository HEAD
- Yes
- Scanner rules are current
- Yes
- Repository scan complete
- No
- Skill scan complete
- No
- Observed behavior
- Instructions only
- Last checked
- Nov 6, 2026
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Repository context
- Repository stars (not skill ratings)
- 21
- Repository last updated
- Sep 27, 2026
- License
- AGPL-3.0
Observed agent integration: No specific integration evidence. Standard SKILL.md installation does not imply verified compatibility.
- ai Repository topic
- ai-agents Repository topic
- ai-bio Repository topic
- bioinformatics Repository topic
- bioinformatics-tool Repository topic
- claude Repository topic
- claude-code Repository topic
- claude-code-mcp Repository topic
- claude-code-plugin Repository topic
- claude-code-skills Repository topic
- engineering Derived category
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SKILL.mdcore · 29,830 bytesSKILL.mdcore · 29,830 bytesreferences/literature.mddoc · 11,305 bytes
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