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Researchers Cracking the Human Genome Function

, they created new computational techniques and used powerful computers to unravel the locations of gene-controlling sequences, and to pull together data generated by other ENCODE centers to gain a more complete picture of how the genome was working.

In the beginning we only had the vaguest idea how the various functional data sets might fit together, said Noble. Because of that, the researchers had to build their computational tools from scratch, which required several years of work. The group used the Internet to help rapidly disseminate and review complex computational analyses with researchers around the world.

Even though the ENCODE consortium studied only 1 percent of the human genome, Stamatoyannopoulos believes their research will be useful for understanding the entire genome.

The progress of the past four years has been breathtaking, as we have moved from being able to analyze only a few thousand DNA base pairs at a time, up to 1 perecnt of the genome, or 30 million bases, he said. Now, with new technologies in hand, the entire genome is within reach. Expanding the ENCODE project to the entire genome will have a major impact on our understanding of the genetic basis of common diseases, where defects in gene-controlling sequences likely play a key role.

Non-gene elements of the human genome have been relatively understudied in the past, but recent research has shown that non-gene DNA defects play a critical role in many common diseases, like prostate and colon cancer, inflammatory bowel disease, arthritis, and diabetes. By having a complete map of functional DNA within the genome, biomedical scientists will be able to track down the causes of these diseases far more rapidly than before, and will be better equipped to treat or prevent them.


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