Biobank dataset inclusion and rare disease


Loving the new release. I see that the new release includes the UK biobank data.

Do you think this dataset is likely to include people with rare disease such as intellectual disability? Trying to work out whether a variant being present in a couple of individuals in Gnomad V4 would exclude a variant in a penetrant autosomal dominant condition.

Many Thanks,


Hi Joseph,

We don’t do any filtering on the phenotypes of individuals within UK Biobank. So yes, there is a chance that someone with intellectual disability who is in UK Biobank may also be included in the aggregated counts here.

That said, we anticipate that rare disease patients will be seen at no higher than their population prevalence. My understanding is that the UK Biobank is fairly depleted of rare disease patients compared to their expected prevalence, but there are a handful of individuals.

Best wishes,

Thanks Kaitlin - this is good to know.