人类变异参考基因组:
https://www.ncbi.nlm.nih.gov/variation/docs/human_variation_vcf/#file-update
https://ftp.ncbi.nih.gov/snp/organisms/human_9606/VCF/
SnpSift
文档:
https://pcingola.github.io/SnpEff/ss_annotate/
进行rsId Annotate
脚本:
for chr in {1..22}; dojava -jar /home/user/snpsift/snpEff/SnpSift.jar annotate -id /data/user/1000genomes/dbsnp/All_0418_NoneINFO.recode.vcf /data/user/1000genomes/release_0502/release_0502_aspera/ALL.chr${chr}.phase3_shapeit2_mvncall_integrated_v5b.0502.genotypes.vcf > chr${chr}.dbsnp.vcf;done
最后结果:
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