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.

plugin/skills/variant-annotation/SKILL.md

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Source commit 36836c8725fd4d20d9c851ce314f5151aea5f57c

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Yes
Scanner rules are current
Yes
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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

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