Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? SA: This project grew naturally from our previous work showing that sensory and metabolic age-related hearing loss have distinct genetic profiles. We wanted to take the next step and ask whether these genetic differences could be... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? CS: When Katrina Claw, PhD, and Randi Johnson, PhD, MPH, reached out about this project, I was excited to learn more about the Colorado Center for Personalized Medicine Biobank on our campus. Being in the Claw lab, I have been part... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? KA: In the beginning I was really interested in characterizing Pilarowski-Björnsson Syndrome (PILBOS), as a recently identified genetic disorder. I was motivated by the open-ended potential for uncovering the biological mechanisms of the disorder and for... Read More
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