Realizing the benefits of human genetics and genomics research for people everywhere.
By Nandana Rao, PhD Since becoming a graduate student, I haven’t had the chance to attend an in-person ASHG annual meeting before. I was looking forward to attending ASHG 2022 after the virtual meetings in 2020 and 2021. I had no real sense of the scale of the meeting going in, but when I entered... Read More
Shawn Fayer, MS, CGC, PhD candidate, University of Washington Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN Position: PhD Candidate – University of Washington, Department of Genome Sciences ASHG: Can you describe the type of research that has your primary focus? Shawn Fayer: My... Read More
The American Society of Human Genetics (ASHG) today published a new Guidance on the challenges in the development and application of polygenic scores (PGS) in human genetic research. Appearing in today’s issue of the American Journal of Human Genetics (AJHG), this new resource was developed by a writing group led by members of the ASHG... Read More
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What prompted you to start working on this project? SR: When discussing the potential clinical utility of polygenic risk scores, a typical question from the audience is, “Why bother testing your genetic risk profile when the role of genetic risk can simply be measured using a... Read More
Posted By: HGG Advances What motivated you to start working on this project? Over billions of years of evolution since their endosymbiotic origin, mitochondria have ceded the genetic code that controls most of their form and function to the nuclear genome. What was fascinating to me is that mitochondria retained a small circular genome (mtDNA)... Read More