This is such a great infograph to explain what gene burden brings to the table.

Our blog post explores
@ASTRAZENECAUK
's
@Regeneron
's and #Genebass's insights from the UKBiobank exome data. The most exciting bit for me is the convergence between other types of genetic variation.

👉 Read all about it here https://t.co/0mZhngtw9t
👉 Or follow the link for a nice TLDR https://twitter.com/OpenTargets/status/1632776239738912774?s=20

This is such a great infograph to explain what gene burden brings to the table.

Our blog post explores
@ASTRAZENECAUK
's
@Regeneron
's and #Genebass's insights from the UKBiobank exome data. The most exciting bit for me is the convergence between other types of genetic variation.

RT OpenTargets@twitter.com
https://twitter.com/OpenTargets/status/1632776251306831872?s=20

@biorxivpreprint

With the advent of public health data correlated with genetic data (#Genebass from @uk_biobank
and #FinnGen), we have the possibility now to start screening variants in vitro for functional effects - then mine interesting natural variants for disease phenotypes!

And also in honor of #InternationalWomensDay I should probably point out that #fibromyalgia is 2-9 times more common in #women. This is in a way another argument in favor of #inflammation as a cause of the disease.

@biorxivpreprint
The most exciting of the two at the moment is CARD9, where the disease associations in #Genebass to the first activated variant we identified (G111E) (#constipation #IBS #fibromyalgia #depression #anxiety ...) led to more activated variants.
Especially #fibromyalgia was able to identify CARD9 activated variants:

https://app.genebass.org/gene/ENSG00000187796/phenotype/categorical-20002-both_sexes-1542-?burdenSet=missense%7CLC&resultIndex=gene-manhattan

We could identify the natural variants G111R, K165E, K165del, S172N, E523Q, E523Q and *537Qext59 as activating, strong confirmation.

@biorxivpreprint

A project that started as a fun little side-project (structure-function comparisons in the CARD-CC family: CARD9, CARD10, CARD11 and CARD14). Then #serendipity happened: identification of activated CARD9 and CARD10 natural variants and novel disease association in #Genebass.
Activated CARD11 (causing B cell #lymphomas or #BENTA) and CARD14 (causing #psoriasis or #PRP) already known. With activated CARD9 and CARD10, we have activated variants in all 4 CARD-CC family members.