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Built for the Claude Code community with Claude Code by @mertduzgun

Independent project, not affiliated with Anthropic
  1. Skills
  2. /
  3. mims-harvard
  4. /
  5. tooluniverse
  6. /
  7. Tooluniverse Variant Analysis

Tooluniverse Variant Analysis

Editor's Note

This handles the full VCF analysis stack: parsing variant calls, annotating consequence types (synonymous, missense, frameshift), filtering by VAF, and splitting coding from non-coding variants. Ships with three battle-tested scripts that encode the gotchas you'd otherwise spend hours debugging. The GATK HaplotypeCaller pipeline script runs BWA alignment through variant calling or counts existing VCFs with proper multi-allelic split handling. The coding variant filter knows about two-row VarSeq Excel headers and correctly excludes intronic, intergenic, and UTR junk. The fraction calculator uses coding variants as the denominator, not all variants, which matters when clinical papers report mutation burdens. One heads-up: it defaults to diploid calling because that's what most published HaplotypeCaller runs used, even on prokaryotes.

Install

npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-variant-analysis
Votes
0
Installs230
GitHub Stars1.4k
First SeenJun 3, 2026
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