I have a question on one of your newest features, which is the incorporation of UKB-exome-based gene burden associations, and even more recently also using additional non-UKB resources.
Somehow I am unable to obtain this information from the OpenTargets Platform. For instance, searching on NPC1 in the Open Targets Genetics Platform I still only see the locus-to-gene and
colocalization results. I most likely have to search via another route on the website, but unable to find it.
Could you please help me further?
We have two separate informatics tools, the Open Targets Platform (platform.opentargets.org), and Open Targets Genetics (genetics.opentargets.org).
We integrated Gene Burden data as a new feature in the Open Targets Platform (see Open Targets Platform 22.04 has been released! and Open Targets Platform 22.06 has been released!). So you will not find this information in the Genetics portal.
In the Platform, gene burden data is available for certain gene-disease pairs. For example, we have gene burden evidence from Regeneron, the AstraZeneca PheWAS portal, and Genebass, that supports the association of NPC1 and mean corpuscular volume:
I hope this answers your question!