The 5-Year, $288-Million-Dollar ENCODE Genome Project Is Completed (VIDEO)

After a massive five-year, $288 million effort, scientists have published a study detailing the complex relationship between regulatory proteins, RNA, and gene expression.

The human genome was officially completed back in 2003 and revealed that only about 1.5 percent of our genome is responsible for proteins that play an important role in cell function.

"Until now, we had only the nucleotide sequence," said Stanford geneticist Michael Snyder, PhD, one of the study's leaders."Now we have the beginnings of a regulatory network, or wiring diagram, for a human being. This global overview will help us understand how changes in the genome cause disease, and also to see how an individual's unique genetic code may affect his or her health in meaningful ways."

More than 440 scientists from 32 labs around the world conducted over 1,600 experiments to find out that almost 80 percent of the 'junk' DNA actually plays a biological role.

Snyder and the team are interested in making this information useful for the identification and treatment of diseases.

The project has been codified into Encyclopedia of DNA elements, or ENCODE. Snyder and his fellow Stanford researchers hope to create a database called RegulomeDB that would combine ENCODE's knowledge with other DNA data to help researchers figure out which genetic variations could be responsible for a disease.

"Until now, everyone has just been looking under the proverbial lamppost for the causes of disease," Snyder said. "But 85 percent of variants identified through genome-wide association studies, or GWAS, lie outside these regions. Now we can greatly expand our studies to the rest of the genome."

The research will also be used by geneticists in other fields of study.

"The human genome was a bit like getting 'War and Peace' in Russian: It's a great book containing all of human experience, but [if] I don't know any Russian it's very hard to read," said Ewan Birney, a computational biologist at the European Bioinformatics Institute in England.

Hopefully, the new information will allow scientists to better understand the complex role genes and gene expression play in our everyday lives and in disease.