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.

Update Frequency

New data are added as soon as they are available.

License

There are no restrictions on the use of this data. More information on citation is available here.

Documentation

https://github.com/awslabs/open-data-docs/tree/main/docs/giab

Managed By

National Institute of Standards and Technology

See all datasets managed by National Institute of Standards and Technology.

Contact

http://genomeinabottle.org/

How to Cite

Genome in a Bottle on AWS was accessed on DATE from https://registry.opendata.aws/giab.

Usage Examples

Tools & Applications

• GA4GH Benchmarking Tools by GA4GH Benchmarking Team
  
• The Genome in a Bottle Github Project by Genome In A Bottle Consortium
  

Publications

• Extensive sequencing of seven human genomes to characterize benchmark reference materials by Zook J et al (2016)
  
• High-coverage, long-read sequencing of Han Chinese trio reference samples by Wang Y et al (2019)