Posted By: HGG Advances HGGA: What motivated you to start working on this project? SG: I’ve been very interested in understanding differences in gene regulation across human populations and how genetic ancestry shapes gene expression. However, when I started thinking seriously about studying these questions at the cell-type resolution, I realized that multi-ancestry single-cell datasets... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? Authors: Heart failure is common and deadly, but its genetics are hard to nail down because it’s highly polygenic, and many genome-wide association study signals haven’t been translated into actionable biology or treatment ideas. We were motivated by the strong genetic overlap between... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? Most genomic research has focused on individuals of European ancestry and has commonly used imputation panels that contain more European haplotypes, leading to poorer accuracy in other ancestries. In addition, standard panels are largely disease-agnostic, whereas ours is built from Alzheimer’s... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? Anne Gregor (AG): I first became interested in FBXO11, when we and others could link variants in this gene to a variable neurodevelopmental disorder (NDD). As not much was known about neuronal functions of the ubiquitin ligase complex protein FBXO11 and... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? JM: From the perspective of developmental biology and physiology, I found it fascinating that a gene important for mitochondrial complex IV function could be deleted in its entirety. Yet, more important for me was the opportunity to help a family arrive... Read More