Hi all,
I am checking allele frequencies and would like to compare them with those from other datasets.
I remember that there was previously information available on which cohorts or datasets were included in the gnomAD frequency estimates, but I am no longer able to find it.
I would like to confirm whether the CONVERGE cohort is included in the current gnomAD v4.1 release. In addition, I noticed that the Help page lists “gnomAD v4.1 (non-UKB)” under dataset selection: gnomAD. So I’m wondering whether the standard gnomAD v4.1 release includes UK Biobank data, and whether the “non-UKB” version is provided as a separate subset, and how to access it?
Thank you very much.
Best,
Fred
You can find the list of projects that have contributed data to gnomAD on the About page under “Data contributors.”
Yes, gnomAD v4.1 includes exome data from UK Biobank. You can read more about each new data release in the corresponding blog post (for example, v4.0 discusses the addition of UK Biobank data). The full-cohort and non-UK-biobank frequency information is annotated in the exome VCFs and hail tables available for download on the Downloads page. It is also available as a data subset when using the browser, as you saw on the dataset selection page. You can find additional information on data formats and annotations on our FAQ page. When considering whether it is best to use non-UKB data in your research, we recommend referring to our recent talk on common misconceptions about gnomAD (recording/notes here).