Seconded! I think it is also timely as more burden studies with larger sample sizes are coming out now. I think it is interesting to know the biology where all of these genetic studies (GWAS, burden, or even structural variants) intersect on for different phenotypes?
Enjoyed reading this paper! Super helpful for me.
Excited to share our latest work on the factors that determine what genes we find (and don't find!) in GWAS and burden tests.
We describe a critical concept that we call *specificity*.
Led by Jeff Spence and Hakhamanesh Mostafavi:
Excited for a major milestone in our efforts to map enhancers and interpret variants in the human genome:
The E2G Portal! e2g.stanford.edu
This collates our predictions of enhancer-gene regulatory interactions across >1,600 cell types and tissues.
Uses cases 👇
1/
The difference between doing a project and presenting it. An observation can lead to many avenues of explorations before focus turns to a specific discovery. Presenting it, in a talk / paper, follows inversely, with broad perspectives coming before & after the specific discovery.
Specificity, length, and luck: How genes are prioritized by rare and common variant association studies https://www.biorxiv.org/content/10.1101/2024.12.12.628073v1
Million Veteran Program & FinnGen teams are pleased to release v1 meta-analysis of MVP, FinnGen and UKBB GWAS data. This first version includes ~300 binary disease definitions across >1.5 M individuals.
Browse scans at: mvp-ukbb.finngen.fi
