AWS HealthOmics에서 Annotation 작업 수행하기

AWS HealthOmics의 Analytics 기능을 활용하여 annotation작업을 수행할 수 있습니다.

준비물

• 입력 샘플 VCF
• Annotation할 정보 소스 VCF (예: ClinVar)

s3://omics-eventbridge-solutio-healthomicsckaoutput6642-xbtuwqnxt8uw/outputs/9881593/out/output_vcf/NA12878.hg38.g.vcf.gz

 

 

기타 참고 리소스

• https://catalog.workshops.aws/amazon-omics-end-to-end/en-US/010-xp-console/300-omics-analytics
• https://github.com/vcflib/vcflib/tree/master
• https://github.com/Ensembl/ensembl-vep
• echtvar
  • https://academic.oup.com/nar/article/51/1/e3/6775383
  • https://github.com/brentp/echtvar/wiki/why
• https://github.com/brentp/vcfanno