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bio-phasing-imputation-reference-panels

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

bio-phasing-imputation-reference-panels:Select 、 prepare reference panels (1KGP,HRC,TOPMed) ,用于 imputation。

OpenClawNanoClaw选题发现精读整理bio-phasing-imputation-reference-panels🧠 bioos extended suitebioos extended bioinformatics suiteselect

原始来源

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-phasing-imputation-reference-panels

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

  • BASE_URL="http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000G_2504_high_coverage/working/20201028_3202_phased。
  • 用于 chr in {1..22};do wget ${BASE_URL}/CCDG_14151_B01_GRM_WGS_2020-08-05_chr${chr}.filtered.shapeit2-duohmm-phased.vcf.gz wget ${BASE_URL}/CCDG_14151_B01_GRM_WGS_2020-08-05_chr${chr}.filtered.shapeit2-duohmm-phased.vcf.gz.tbi done。
  • wget http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000G_2504_high_coverage/1000G_2504_high_coverage.sequence.index。

原始文档

SKILL.md 摘录

Create population sample lists

grep "EUR" samples.txt | cut -f1 > european_samples.txt grep "AFR" samples.txt | cut -f1 > african_samples.txt grep "EAS" samples.txt | cut -f1 > east_asian_samples.txt

Subset reference to specific population

bcftools view -S european_samples.txt
1000GP.chr22.vcf.gz
-Oz -o 1000GP_EUR.chr22.vcf.gz


## Beagle uses VCF directly, but ensure proper format

bcftools view -m2 -M2 -v snps reference.vcf.gz | \
    bcftools annotate --set-id '%CHROM:%POS:%REF:%ALT' | \
    bgzip > reference_beagle.vcf.gz
bcftools index reference_beagle.vcf.gz

适用场景

  • Use bio-phasing-imputation-reference-panels ,用于 manuscript drafting 、 submission workflows。
  • Apply bio-phasing-imputation-reference-panels when polishing research communication outputs。

不适用场景

  • Do not treat this catalog entry as substitute ,用于 full upstream workflow。

上游相关技能

  • phasing-imputation/haplotype-phasing - Use panels for phasing
  • phasing-imputation/genotype-imputation - Use panels for imputation
  • variant-calling/vcf-manipulation - VCF file operations

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