Design armored CAR-T cells with cytokine payloads and resistance mechanisms.
bio-variant-normalization
维护者 FreedomIntelligence · 最近更新 2026年4月1日
Normalize indel representation and split multiallelic variants using bcftools norm. Use when comparing variants from different callers or preparing VCF for downstream analysis.
原始来源
FreedomIntelligence/OpenClaw-Medical-Skills
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-variant-normalization
- 维护者
- FreedomIntelligence
- 许可
- MIT
- 最近更新
- 2026年4月1日
技能摘要
来自 SKILL.md 的关键信息
核心说明
- Left-align indels 、 split multiallelic sites ,使用 bcftools norm。
- Comparing variants ,面向 different callers。
- Database lookups (dbSNP,ClinVar)。
- Merging VCF files。
- chr1 100 ATCG (right-aligned) chr1 100 ATC (left-aligned,normalized) chr1 101 TCG T (different position)。
原始文档
SKILL.md 摘录
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.
适用场景
- 适合在comparing variants ,面向 different callers 或 preparing VCF ,用于 downstream analysis时使用。
不适用场景
- Do not rely on this catalog entry alone ,用于 installation 或 maintenance details。
上游相关技能
- variant-calling - Generate VCF files
- filtering-best-practices - Filter after normalization
- vcf-manipulation - Compare normalized VCFs
- variant-annotation - Annotate normalized variants
相关技能
相关技能
arxiv-search
Search arXiv physics, math, and computer science preprints using natural language queries. Powered by Valyu semantic sea…
Autonomous oncology research agent: literature mining, trial matching, biomarker analysis, and treatment hypothesis gene…
Preprocesses cell-free DNA sequencing data including adapter trimming, alignment optimized for short fragments, and UMI-…