Whole-Exome Sequencing Helps Identify Rare Genetic Diseases

Two recently published studies supported by the National Institutes of Health (NIH) suggest that analyzing a small portion of a person’s full genome, known as the exome, may be an effective way to diagnose rare genetic disorders. The exome contains only about 1% of the 6 billion DNA pairs in the entire genome, but they are the areas that code for proteins, where many genetic diseases originate.

Research teams analyzed the exomes of nearly 3,000 people thought to have a genetic disorder and identified a potential molecular diagnosis for about 1 in 4 participants. According to NIH, more studies will be needed to confirm the findings and determine how whole-exome sequencing can best be applied in the clinic.

More details and links to the published studies are available at NIH News in Health.