Inside HGGA

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

Posted By: HGG Advances HGGA: What motivated you to start working on this project?   EJ: I wanted to obtain further insights into the genetics of the Greenlandic population, as it is a genetically unique and understudied population. Specifically, we sought to look further into a range of cardiometabolic phenotypes. The end goal was to improve... Read More

Posted By: HGG Advances HGGA: What motivated you to start working on this project?   TS: As RNA-seq is now the state-of-the-art method for measuring gene expression, we were motivated to help researchers better design these experiments for eQTL mapping, a common application using RNA-seq data. We found that it’s possible to boost association power by... Read More

Posted By: HGG Advances HGGA: What motivated you to start working on this project?   AB: Clinical manifestations among C. trachomatis patients are highly variable. For example, up to 80% of C. trachomatis genital infections are asymptomatic and if left untreated, can lead to severe clinical outcomes such as pelvic inflammatory disease, ectopic pregnancies, and infertility.... Read More

Posted By: HGG Advances HGGA: What motivated you to start working on this project?   NU: Despite being first described over 100 years ago, mutations underlying hepatic hemangiomas (HHs) had not been identified. Mutations associated with cutaneous venous malformations (CVMs) have been found, but a significant proportion still have no genetic explanation. We also found it... Read More