Inside HGGA

Posted By: HGG Advances HGGA: What motivated you to start working on this project?  OB: Most genetic association studies are currently focusing on European populations, which creates disparities with other under-represented populations, especially when translating these studies into the clinic. Polygenic predictions are based on these studies and represent an important component of precision medicine.... Read More

Posted By: HGG Advances  HGGA: What motivated you to start working on this project?   MG: My interest in this project started with an evolutionary question: why is the prevalence of some so-called ‘unfit’ traits sometimes higher than expected? Nearly 15% of human couples ask for medical assistance to achieve a healthy pregnancy, and many will... Read More

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