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