Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? TT: This project started with a family affected by a rare X-linked recessive neurological disease where a genetic diagnosis had been pursued for many years. When I joined the project, the disease had recently been linked... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? NB: I think the topic of outliers is really interesting! At the start of my PhD, there were two ways I was thinking about outliers: people who have extreme observed values, and people who have extremely different... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? XS: Alzheimer’s disease risk differs across populations, but much of the genetic and transcriptomic work in the field has historically focused on cohorts of European ancestry. That makes it harder to determine which disease-associated regulatory mechanisms are shared across... Read More
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