Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? JA: There are several important motivations for this work. First, breast cancer is a prevalent female cancer, affecting approximately one in eight women in the United States. This means we all know someone affected by breast cancer and have... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? KL: We kept running into GWAS loci where the whole “one variant, one gene” story felt incomplete. You’d fine-map to a regulatory region sitting between multiple genes, and everyone would argue about which one was “the” causal gene—but what if that was... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? KK: The initial motivation came from discussions with my advisor, Sebastian Zöllner, PhD, on imputing ancient DNA (aDNA) and whether meta-imputation would be the best way to leverage an aDNA reference panel. We are still working on that question, but... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? AV: There’s a statistical genetic technique called Mendelian randomization, which can very easily identify if there is a causal link between two traits, as long as there are genome-wide association study (GWAS) summary statistics available for both of them.... Read More
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