Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? KZ: It was the growing tension between conclusions from controlled lab experiments and the immense variability in inherited disease I encountered during my clinical training. During my PhD, I used gene editing to neatly isolate the effect size of... 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: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? AM: During my undergraduate studies in Colombia, I started working on rare diseases, and we often found several patients carrying the exact same genetic variant. Several populations have experienced founder events, such as Quebec and Colombia.... 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? OP: Despite significant advances in our understanding of the genetic basis of complex traits and diseases — and the potential of polygenic scores (PGS) to guide personalized medicine — these tools are still only beginning to enter clinical use. A major... Read More