giab.yaml

Name: Genome in a Bottle on AWS
Description: "Several reference genomes to enable translation of whole human genome sequencing to clinical practice. On 11/12/2020 these data were updated to reflect the most [up to date GIAB release](https://www.nist.gov/programs-projects/genome-bottle)."
Documentation: https://docs.opendata.aws/giab/readme.html
Contact: http://genomeinabottle.org/
UpdateFrequency: New data are added as soon as they are available.
Tags:
  - aws-pds
  - genetic
  - genomic
  - life sciences
  - reference index
  - vcf
License: |
  There are no restrictions on the use of this data. More information on citation is available [here](https://www.nist.gov/programs-projects/genome-bottle).
Resources:
  - Description: "GIAB release data, last updated 11/12/2020."
    ARN: arn:aws:s3:::giab
    Region: us-east-1
    Type: S3 Bucket
DataAtWork:
  Tutorials:
  Tools & Applications:
    - Title: GA4GH Benchmarking Tools
      URL: https://github.com/ga4gh/benchmarking-tools
      AuthorName: GA4GH Benchmarking Team
    - Title: The Genome in a Bottle Github Project
      URL: https://github.com/genome-in-a-bottle/about_GIAB
      AuthorName: Genome In A Bottle Consortium
  Publications:
    - Title: Extensive sequencing of seven human genomes to characterize benchmark reference materials
      URL: https://www.nature.com/articles/sdata201625
      AuthorName: Zook J et al (2016)
    - Title: High-coverage, long-read sequencing of Han Chinese trio reference samples
      URL: https://www.nature.com/articles/s41597-019-0098-2
      AuthorName: Wang Y et al (2019)