流程自动化科研基础设施FreedomIntelligence/OpenClaw-Medical-Skills数据与复现
JO

joint-calling

维护者 FreedomIntelligence · 最近更新 2026年4月1日

joint-calling。

OpenClawNanoClaw分析处理复现实验joint-callingopenclaw medical skillsadditional scientific toolsjoint

原始来源

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/joint-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

2 min

核心说明

  • Call variants jointly across multiple samples ,用于 improved accuracy 、 consistent genotyping。
  • gatk HaplotypeCaller \ -R reference.fa \ -I sample1.bam \ -O sample1.g.vcf.gz \ -ERC GVCF。

原始文档

SKILL.md 摘录

Why Joint Calling?

  • Improved sensitivity - Leverage information across samples
  • Consistent genotyping - Same sites called across all samples
  • VQSR eligible - Requires cohort for machine learning filtering
  • Population analysis - Allele frequencies across cohort

With intervals (faster)

gatk HaplotypeCaller
-R reference.fa
-I sample1.bam
-O sample1.g.vcf.gz
-ERC GVCF
-L intervals.bed


## Process all samples

for bam in *.bam; do
    sample=$(basename $bam .bam)
    gatk HaplotypeCaller \
        -R reference.fa \
        -I $bam \
        -O ${sample}.g.vcf.gz \
        -ERC GVCF &
done
wait

适用场景

  • Use joint-calling in 科研工作流 aligned ,支持 this subject area。
  • Follow upstream documentation ,用于 full working procedure。

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/gatk-variant-calling - Single-sample calling
  • variant-calling/filtering-best-practices - VQSR and hard filtering
  • population-genetics/plink-basics - Population analysis of joint calls
  • workflows/fastq-to-variants - End-to-end germline pipeline

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