Genome in a Bottle on AWS

Stream data with DDA:

from dagshub.streaming import DagsHubFilesystem

fs = DagsHubFilesystem(".", repo_url="https://dagshub.com/DagsHub-Datasets/giab-dataset")

fs.listdir("s3://giab")

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.

Contact:

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.

Managed By:

https://www.nist.gov/

Resources:

1. resource:
   • Description: GIAB release data, last updated 11/12/2020.
   • ARN: arn:aws:s3:::giab
   • Region: us-east-1
   • Type: S3 Bucket

Tags:

aws-pds, genetic, genomic, life sciences, reference index, vcf

Tools & Applications:

1. tools & applications:

   • Title: GA4GH Benchmarking Tools
   • URL: https://github.com/ga4gh/benchmarking-tools
   • AuthorName: GA4GH Benchmarking Team

2. tools & applications:

   • Title: The Genome in a Bottle Github Project
   • URL: https://github.com/genome-in-a-bottle/about_GIAB
   • AuthorName: Genome In A Bottle Consortium

Publication:

1. publication:

   • 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)

2. publication:

   • 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)