New computation method helps identify functional DNA

Striving to unravel and comprehend DNA's biological significance, Cornell scientists have created a new computational method that can identify positions in the human genome that play a role in the proper functioning of cells, according to a report published Jan. The human genome is vast, totaling some three billion base pairs of nucleotides, the subunits of DNA. But only about 1.25 percent of those billions of base pairs account for genes that encode all the proteins we use. A fraction of the rest of that genetic material regulates genes and turns them on and off, but these have yet to be fully identified. "This paper tackles the deep question of how to identify functional non-coding human genomic material controlling human traits and disease," said Brad Gulko, the paper's first author and a graduate student in the field of computer science. Gulko's adviser, Adam Siepel, Cornell associate professor of biological statistics and computational biology and professor of computer science at Cold Spring Harbor Laboratory, is a co-author. "What makes our approach unique is the straightforward combination of DNA biochemistry with recent evolutionary pressures," said Gulko.