There are hundreds of cell types in the human body, each with a specific role spelled out in their DNA. In theory, all it ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

As genetic sequencing technology becomes more accessible and efficient, researchers have made significant strides in understanding the genetic underpinnings of various diseases. This knowledge has led ...

A cancer diagnosis is one of the most dreaded news an individual and their family could receive. In the past, many scientists and clinicians have searched for a definitive cure for cancer. However, ...

Despite rapid advances in genetic testing over recent decades, about half of people with a suspected Mendelian genetic disorder have no accurate diagnosis, while others may have to wait years for ...

A whole-genome sequencing approach shows early promise over current commercial methods for identifying more patients likely ...