Tag: population-genetics

Type: All Skills Tools
Tags: mcp automation llm cli code-review unity typescript genomics game-development bioinformatics debugging documentation cloudbase ai-agents agentic-workflow devops llm-agent workflow-automation encode code-analysis
tool ★ 34

Annotate regulatory variants with population genetics

This tool facilitates the annotation of ENCODE regulatory variants by querying gnomAD for population allele frequencies and gene constraint scores (pLI, LOEUF). It enables developers to prioritize variants by assessing rarity and functional…

ammawla/encode-toolkit gnomad variant-annotation population-genetics allele-frequency
skill ★ 34

Annotate regulatory variants with gnomAD data

This skill annotates ENCODE regulatory variants by querying gnomAD for population allele frequencies and gene constraint scores (LOEUF, pLI). It enables researchers to prioritise variants by assessing rarity and functional constraint, integ…

ammawla/encode-toolkit gnomad variant-annotation population-genetics enckode