数据与复现统计与数据分析FreedomIntelligence/OpenClaw-Medical-Skills数据与复现
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bio-vcf-statistics

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

bio-vcf-statistics:生成 variant statistics,sample concordance,、 quality metrics ,使用 bcftools stats 、 gtcheck。 适合在evaluating variant quality,comparing samples,或 summarizing VCF contents时使用。

OpenClawNanoClaw分析处理复现实验bio-vcf-statistics🧬 bioinformatics (gptomics bio-* suite)bioinformatics — clinical databases & variant analysisgenerate

原始来源

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-vcf-statistics

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

  • 生成 statistics 、 quality metrics ,使用 bcftools。
  • bcftools view -v snps -H input.vcf.gz | wc -l。

原始文档

SKILL.md 摘录

Statistics Tools

CommandPurpose
bcftools statsComprehensive variant statistics
bcftools gtcheckSample concordance and relatedness
bcftools queryCustom summaries

bcftools stats

Goal: Generate comprehensive variant statistics including counts, Ti/Tv ratio, and quality distributions.

Approach: Run bcftools stats and parse section-tagged output lines (SN, TSTV, AF, QUAL, DP).

"How many variants are in this VCF?" → Compute summary counts, substitution types, and quality distributions from variant records.

View Key Metrics

Output sections:

  • SN - Summary numbers
  • TSTV - Transitions/transversions
  • SiS - Singleton stats
  • AF - Allele frequency distribution
  • QUAL - Quality distribution
  • IDD - Indel distribution
  • ST - Substitution types
  • DP - Depth distribution

适用场景

  • 适合在evaluating variant quality,comparing samples,或 summarizing VCF contents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

  • vcf-basics - View and query VCF files
  • filtering-best-practices - Evaluate filter impact
  • vcf-manipulation - Compare call sets
  • variant-calling - Assess calling quality

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