title | description | ms.service | ms.topic | ms.date |
---|---|---|---|---|
Genome Aggregation Database (gnomAD) |
Learn how to use the Genome Aggregation Database (gnomAD) dataset in Azure Open Datasets. |
open-datasets |
sample |
04/16/2021 |
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
[!INCLUDE Open Dataset usage notice]
This dataset is hosted as a collaboration with the Broad Institute and the full gnomAD data catalog can be seen at https://gnomad.broadinstitute.org/downloads
This dataset contains approximately 30 TB of data and is updated with each gnomAD release.
The Storage Account hosting this dataset is in the East US Azure region. Allocating compute resources in East US is recommended for affinity.
Storage Account: 'https://datasetgnomad.blob.core.windows.net/dataset/'
The data is available publicly without restrictions, and the AzCopy tool is recommended for bulk operations. For example, to view the VCFs in release 3.0 of gnomAD:
$ azcopy ls https://datasetgnomad.blob.core.windows.net/dataset/release/3.0/vcf/genomes
To download all the VCFs recursively:
$ azcopy cp --recursive=true https://datasetgnomad.blob.core.windows.net/dataset/release/3.0/vcf/genomes .
NEW: Parquet format of gnomAD v2.1.1 VCF files (exomes and genomes)
To view the parquet files:
$ azcopy ls https://datasetgnomadparquet.blob.core.windows.net/dataset
To download all the parquet files recursively:
$ cp --recursive=true https://datasetgnomadparquet.blob.core.windows.net/dataset
The Azure Storage Explorer is also a useful tool for browsing the list of files in the gnomAD release.
Data is available without restrictions. For more information and citation details, see the gnomAD about page.
For any questions or feedback about this dataset, contact the gnomAD team.
View the rest of the datasets in the Open Datasets catalog.