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数据与复现
BI
bio-phasing-imputation-imputation-qc
维护者 FreedomIntelligence · 最近更新 2026年4月1日
QC imputed data: R² filter, INFO score, allele concordance.
原始来源
FreedomIntelligence/OpenClaw-Medical-Skills
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-phasing-imputation-imputation-qc
- 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
- bcftools query -f '%CHROM\t%POS\t%ID\t%REF\t%ALT\t%INFO/DR2\t%INFO/AF\n' \ imputed.vcf.gz > info_scores.txt。
- bcftools query -f '%CHROM\t%POS\t%ID\t%REF\t%ALT\t%INFO/R2\t%INFO/MAF\n' \ imputed.vcf.gz > info_scores.txt。
原始文档
SKILL.md 摘录
IMPUTE info
bcftools query -f '%CHROM\t%POS\t%ID\t%INFO\n' imputed.vcf.gz > info_scores.txt
## Standard threshold for GWAS
bcftools view -i 'INFO/DR2 > 0.3' imputed.vcf.gz -Oz -o imputed_r2_03.vcf.gz
## Strict threshold for fine-mapping
bcftools view -i 'INFO/DR2 > 0.8' imputed.vcf.gz -Oz -o imputed_r2_08.vcf.gz
适用场景
- Use bio-phasing-imputation-imputation-qc ，用于 genomics 、 bioinformatics workflows。
- Apply bio-phasing-imputation-imputation-qc 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
- phasing-imputation/genotype-imputation - Generate imputed data
- variant-calling/filtering-best-practices - VCF filtering operations
- population-genetics/association-testing - GWAS with imputed data
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