Exome Sequencing in the Clinic
Two-hundred fifty patients were referred by their physician to have their whole exome sequenced (the exome is the part of the genome that codes for proteins), of which most were children with neurological disorders such as epilepsy. Researchers then took these patients’ exome data and analyzed it. They were able to identify the cause of the disorder in 25% of the patients. This is significant because it states that 25 out of 100 patients who don’t know the cause of their disorder could have the genetic cause identified using this method.
Download the entire New England Journal of Medicine article here (pdf)