The 1000 Genomes Project, Reanalyzed with DRAGEN and AWS

The 1000 Genomes Project remains one of the most widely used reference datasets in human genomics. It underpins population frequency estimates, GWAS studies, and variant interpretation efforts worldwide. However, the original call sets predate many advances that are now standard in genomics, including structural variant detection, repeat expansion analysis, pharmacogenomic characterization, and pangenome-based analysis. To help address this gap, Illumina and AWS reanalyzed the complete high-coverage cohort of 3,202 whole genomes using DRAGEN, creating an updated analytical baseline that reflects today's genomic analysis capabilities. Researchers can now access a richer and more complete view of human genetic variation.

Read the full story in the AWS Public Sector Blog.

The reanalysis includes call sets generated across five DRAGEN releases, enabling researchers to compare analytical improvements over time using identical input data. The complete dataset is freely available through the AWS Registry of Open Data, with no AWS account or egress fees required. 
Researchers can also access supporting resources to explore the data and evaluate modern approaches such as pangenome-anchored variant calling. Whether you are benchmarking methods, validating bioinformatics workflows, or conducting genomic discovery research, this resource provides a valuable foundation for future studies.

Ready to explore the power of DRAGEN for your own research? Try DRAGEN for free.

For Research Use Only. Not for use in diagnostic procedures

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