Data & ReproClinical MedicineFreedomIntelligence/OpenClaw-Medical-SkillsData & Reproduction
BI

bio-variant-normalization

Maintainer FreedomIntelligence · Last updated April 1, 2026

Normalize indel representation and split multiallelic variants using bcftools norm. Use when comparing variants from different callers or preparing VCF for downstream analysis.

OpenClawNanoClawAnalysisReproductionbio-variant-normalization🧬 bioinformatics (gptomics bio-* suite)bioinformatics — clinical databases & variant analysisnormalize

Original source

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-variant-normalization

Maintainer
FreedomIntelligence
License
MIT
Last updated
April 1, 2026

Skill Snapshot

Key Details From SKILL.md

2 min

Key Notes

  • Left-align indels and split multiallelic sites using bcftools norm.
  • Comparing variants from different callers.
  • Database lookups (dbSNP, ClinVar).
  • Merging VCF files.
  • chr1 100 ATCG A (right-aligned) chr1 100 ATC A (left-aligned, normalized) chr1 101 TCG T (different position).

Source Doc

Excerpt From SKILL.md

Why Normalize?

The same variant can be represented multiple ways:


## bcftools norm

**Goal:** Left-align indels and check reference allele consistency.

**Approach:** Use bcftools norm with a reference FASTA to shift indels to the leftmost position and optionally fix/exclude REF mismatches.

**"Normalize my VCF before comparing callers"** → Left-align indel representations and split multiallelic sites for consistent variant comparison.

## Left-Align Indels

Requires reference FASTA to determine left-most representation.

Use cases

  • Use when comparing variants from different callers or preparing VCF for downstream analysis.

Not for

  • Do not rely on this catalog entry alone for installation or maintenance details.

Upstream Related Skills

  • variant-calling - Generate VCF files
  • filtering-best-practices - Filter after normalization
  • vcf-manipulation - Compare normalized VCFs
  • variant-annotation - Annotate normalized variants

Related skills

Related skills

Back to directory
AR
Data & ReproClinical Medicine

armored-cart-design-agent

Design armored CAR-T cells with cytokine payloads and resistance mechanisms.

OpenClawNanoClawAnalysis
FreedomIntelligence/OpenClaw-Medical-SkillsView
AR
Data & ReproClinical Medicine

arxiv-search

Search arXiv physics, math, and computer science preprints using natural language queries. Powered by Valyu semantic search.

OpenClawNanoClawAnalysis
FreedomIntelligence/OpenClaw-Medical-SkillsView
AU
Data & ReproClinical Medicine

autonomous-oncology-agent

Autonomous oncology research agent: literature mining, trial matching, biomarker analysis, and treatment hypothesis generation.

OpenClawNanoClawAnalysis
FreedomIntelligence/OpenClaw-Medical-SkillsView
BI
Data & ReproClinical Medicine

bio-cfdna-preprocessing

Preprocesses cell-free DNA sequencing data including adapter trimming, alignment optimized for short fragments, and UMI-aware duplicate remo…

OpenClawNanoClawAnalysis
FreedomIntelligence/OpenClaw-Medical-SkillsView