Realizing the benefits of human genetics and genomics research for people everywhere.
Posted By: HGG Advances HGGA: What motivated you to start working on this project? DC: I have a long-standing interest in studying variant effects on gene expression and protein function and in unravelling the molecular mechanisms of disease-associated variants. As part of my PhD project, I developed the SpliceAI-10k calculator, a SpliceAI-based splicing prediction tool... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? LM: Polygenic risk scores (PRS) have been a hot topic in the field of complex disorders for several years now, and they continue to be topical as new methods and datasets emerge to aid in improving the prediction accuracy of these... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? SP: I always had an interest in the field of medical genetics, and oligogenic diseases specifically intrigue me because of their challenging nature, as even after years of research since their first official reporting in the early 1990s, our knowledge on... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? CC: I would say the project started with the first author of the paper, Xin Sheng, who is a staff scientist here in the Center for Genetic Epidemiology as USC. It was really her unrelentless tenacity to track down a quality... 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