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

Genes contain instructions for making proteins, and a central dogma of biology is that this information flows from DNA to RNA to proteins. But only two percent of the human genome actually encodes ...

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