New Computational Methods Help Identify Positions In The Human Genome

New findings published in Nature Genetics uncover DNA's biological significance, according to researchers at Cornell University. They examined how new computational methods can indentify positions in the human genome that play a role in the proper functioning of cells.

As the human genome is composed of three billion base pairs of nucleotides--otherwise known as the subunits of DNA--only about 1.25 percent billions of the base pairs account for genes that encode all the proteins used; this is a mere fraction of the rest of the genetic material that regulates genes and turns them on and off.

"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-authorr, in a news release. "What makes our approach unique is the straightforward combination of DNA biochemistry with recent evolutionary pressures," said Gulko. "Our method allows other scientists not only to use the results, but to readily understand them."

With insight into just how the human genome gained new computation methods, researchers hope to make a big step toward developing treatments for diseases such as AIDS, malaria, muscular sclerosis, ALS and Alzheimer's, which is identified by working on differences between humans and chimpanzee genomes that have been accumulated over millions of years. 

For this, researchers received a "fitness consequence" (fitCons) score that helps predict how genetic material works under selective pressure in biologically significant ways.

When compared to conventional techniques, fit Cons scores demonstrates a much greater power to help predict which genetic material that regulates the expression of the genes.

Furthermore, fitCons scores indicate that 4.2 to 7.5 (but probably closer to 5) percent of nucleotides in the human genome have influenced fitness since humans diverged from chimpanzees.

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