Targeted sequencing to discover novel arrhythmia mutations

By: David Shifrin, PhD Life Science Consultant and Freelance Writer In the previous post, we summarized a paper that discovered novel mutations in a gene that caused structural defects in the aorta, leading to aneurysms and dissections. Here, we’ll look at another cardiovascular problem, the common arrhythmia atrial fibrillation (AF). Mutations in nine genes have… Read More Targeted sequencing to discover novel arrhythmia mutations

Genetic analysis and biological studies reveal a new cause of aortic aneurysms

By: David Shifrin, PhD Life Science Consultant and Freelance Writer Here at the NextGxDx blog we spend a lot of time talking about the types of genetic diseases that seem more obvious. Developmental disease, for example, or cancer. We’re going to switch it up in the next two posts to look at another category of… Read More Genetic analysis and biological studies reveal a new cause of aortic aneurysms

A new workflow for diagnosing genetic disease

By: David Shifrin, PhD Life Science Consultant and Freelance Writer Filtering massive datasets to find relevant information is one of the key challenges in genetic testing. With potentially tens of thousands of variants in each individual’s genome, determining which are responsible for causing symptoms or disease states in that individual is a huge task. A… Read More A new workflow for diagnosing genetic disease