The Dark Corners of Our DNA Hold Clues about Disease

Featured scientificamerican.com, December 18, 2014

The so-called “streetlight effect” has often fettered scientists who study complex hereditary diseases. The term refers to an old joke about a drunk searching for his lost keys under a streetlight. A cop asks, "Are you sure this is where you lost them?" The drunk says, "No, I lost them in the park, but the light is better here."

For researchers who study the genetic roots of human diseases, most of the light has shone down on the 2 percent of the human genome that includes protein-coding DNA sequences.  The trouble is, many disease-related mutations also happen in noncoding regions of the genome—the parts that do not directly make proteins but that still regulate how genes behave. Scientists have long been aware of how valuable it would be to analyze the other 98 percent but there has not been a practical way to do it.

Now Frey has developed a “deep-learning” machine algorithm that effectively shines a light on the entire genome.