For years, scientists have searched for the genetic roots of disease by focusing on the parts of DNA that act like instruction manuals for making proteins. These regions, known as coding genes, have been the main characters in genetic research. But a new discovery is shifting that narrative and shining…
Genetic diseases, especially rare inherited conditions, can be difficult and time-consuming to diagnose. Traditionally, doctors tested one gene at a time or used limited gene panels, often leading to long delays—sometimes called a “diagnostic odyssey.” A newer method, short-read whole genome sequencing (srWGS), reads nearly all of a person’s DNA…
For many people with rare or unexplained conditions, getting a clear diagnosis can take years. This long journey—often called the diagnostic odyssey—may involve multiple doctor visits, repeated tests, and lingering uncertainty. Advances in genetic testing are changing this, and whole genome sequencing (WGS) is emerging as one of the most…
