Data analytics key to leveraging ENCODE DNA project discoveries

It turns out there's a purpose to the so-called "junk" DNA comprising most of the human genome--and health technology will play a major role in unlocking more of its secrets.

Much of the material contains more than 4 million "molecular switches" that regulate the genes in DNA, NPR reports in summarizing the findings published Wednesday in more than two dozen scholarly journals.

"These switches rev genes up. Calm them down. They orchestrate how the whole complex system works," NPR reports. "Scientists have already started to figure out which switches control which genes. And that's uncovered even more surprises. Genes can get instructions from up to dozens of switches. And some of the switches are nowhere near the genes they control."

Damaged or mutated molecular switches help cause certain diseases,changing "the whole way that we look at the genetic basis of disease," said geneticist John Stamatoyannopoulis, who participated in the $288 million, multiyear research project known as ENCODE, for Encyclopedia of DNA Elements.

DNA science and technology now turns to using the discoveries to find new ways to tackle diseases such as cancer and diabetes, the Los Angeles Times reports.

"Now that we have the switches, we can start to understand why a combination of DNA variants might increase the chances of a particular disease," Harvard pathologist ENCODE researcher Dr. Bradley Bernstein told the newspaper.

Data analytics will play a huge role, Brendan Maher reports in the journal Nature. Computational biologist Ewan Birney, who coordinated the ENCODE data analysis, says efforts to map some of the material is only about half completed. Some 90 percent of a "deeper characterization of everything the genome is doing" remains, Maher writes.

"Many who have dipped a cup into the vast stream of data are excited by the prospect" of continued study, according to the Nature article. ENCODE is "creating opportunities to understand how genetic variations affect human traits and diseases," the author writes. "Researchers could spend years just working with ENCODE's existing data--but there is still much more to come."

To learn more:
- read the NPR article
- check out the Times story
- here's the Nature piece

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