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? 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 HGGA: What motivated you to start working on this project? JY: This project was motivated by my previous work about developing a Bayesian Functional GWAS (BFGWAS) method to account for non-overlapped categorical functional annotation for multivariate GWAS. Our previous work of the initial BFGWAS method has shown the advantages of accounting... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? JL: Numerous studies suggest red blood cell distribution width (RCDW) and mean corpuscular volume (MCV) are associated with known risk factors for hemorrhagic stroke. However, prior to our study, no causal link had been seen between these blood cell traits and... Read More