Posted By: HGG Advances HGGA: What motivated you to start working on this project? Authors: We came across the study by Valencia et al. that provided the neurodevelopmental disorder (NDD)-associated variants we used in our study. In that paper, it was shown that mutations causing neurodevelopmental disorders were most enriched in the chromatin-remodeling BAF complex,... Read More
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: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? FR: I had previously developed the graph machine learning framework, Speos, which specializes in the prediction of core genes across several traits. The respective paper, however, primarily focused on benchmarking, validation, and prediction accuracy. Although it... Read More