HGGA

Sara Cullinan, PhD, Director of Scientific Publications Many ASHG members are familiar with the Cotterman Award, an honor bestowed each year to the trainee authors whose work published in The American Journal of Human Genetics (AJHG) is noted for exceptional quality. This year, Human Genetics and Genomics Advances (HGG Advances) introduced the Early-Career Investigator Award... 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

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

Posted By: HGG Advances HGGA: What motivated you to start working on this project?   SM: Working with the Vanderbilt University Undiagnosed Diseases Network (UDN) team during my PhD demonstrated the critical need for better approaches to variant interpretation in rare diseases. And even after a candidate gene and variant are identified, I observed that the... Read More