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数据与复现
ST
structural-variant-calling
维护者 FreedomIntelligence · 最近更新 2026年4月1日
structural-variant-calling.
原始来源
FreedomIntelligence/OpenClaw-Medical-Skills
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/structural-variant-calling
- 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
- configManta.py \ --bam sample.bam \ --referenceFasta reference.fa \ --runDir manta_run。
- manta_run/runWorkflow.py -j 8。
原始文档
SKILL.md 摘录
Somatic SV calling
configManta.py
--tumorBam tumor.bam
--normalBam normal.bam
--referenceFasta reference.fa
--runDir manta_somatic
manta_somatic/runWorkflow.py -j 8
WES mode (for exome data)
configManta.py
--bam sample.bam
--referenceFasta reference.fa
--exome \ # Use exome settings
--callRegions regions.bed.gz \ # Restrict to regions
--runDir manta_exome
RNA-seq mode
configManta.py
--bam rnaseq.bam
--referenceFasta reference.fa
--rna \ # RNA-seq mode
--runDir manta_rna
适用场景
- Use structural-variant-calling ，用于 genomics 、 bioinformatics workflows。
- Apply structural-variant-calling to sequencing，variant，或 omics analysis tasks。
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
- long-read-sequencing/structural-variants - Long-read SV calling
- copy-number/cnvkit-analysis - Copy number variants
- variant-calling/filtering-best-practices - Filter VCF files
- alignment-files/alignment-filtering - Prepare BAM files
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