A comprehensive encyclopedia of the known functions of all protein-coding human genes has just been completed and released. Researchers used large-scale evolutionary modeling to integrate data on ...

Retinitis pigmentosa (RP) is a genetic eye disorder affecting around one in 5,000 people worldwide. It typically begins with ...

Thousands of new genes are hidden inside the “dark matter” of our genome. Previously thought to be noise left over from evolution, a new study found that some of these tiny DNA snippets can make ...

Rapid advances in sequencing technologies have transformed our ability to diagnose human genetic disorders, yet many patients still lack a molecular ...