bio-longread-alignment:Align long reads ,使用 minimap2 ,用于 Oxford Nanopore 、 PacBio data。 支持 various presets ,用于 different…
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。
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
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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