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: HGG Advances HGGA: What motivated you to start working on this project? TR: I started this project as a postdoc, and my interests include variant classification and investigating the clinical utility and impact of exome sequencing. HGGA: What about this paper/project most excites you? TR: I appreciate that this was a very collaborative... 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: HGG Advances HGGA: What motivated you to start working on this project? AT: With my PhD training in statistical genetics and genomics, I was eager to complement my discovery-focused training with functional genomics approaches during my postdoc. During this stage of my training, I’ve focused on using massively parallel reporter assays (MPRAs), which are used to measure... Read More