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Trends & Forecasts

IBM Discovery Could Shed New Light on Workings of the Human Genome
By Newsdesk
Apr 27, 2006

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Following the special Opening Keynote address at LinuxWorld & NetworkWorld Conference & Expo 2006 in Toronto, IBM has announced a major breakthrough from its genetic research activities.

 

Project scientists and genetic researchers have discovered numerous DNA patterns shared by areas of the human genome that were thought to have little or no influence on its function and those areas that do.

 

In his Keynote presentation, Dr. Ajay Royyuru, head of the Computational Biology Center at IBM Research, described the exciting work done by IBM and the National Geograpahic Society as part of The Genographic Project to map human migration patterns and genetic histories.

 

Now, and as reported in the Proceedings of the National Academy of Sciences (PNAS), the team has uncovered regions of the human genome that were assumed to largely contain evolutionary leftovers (called "junk DNA") may actually hold significant clues that can add to scientists' understanding of cellular processes. IBM researchers have discovered that these regions contain numerous, short DNA "motifs," or repeating sequence fragments, which also are present in the parts of the genome that give rise to proteins.

 

If verified experimentally, the discovery suggests a potential connection between these coding and non-coding parts of the human genome that could have a profound impact on genomic research and provide important insights on the workings of cells.

 

"Our goal is to apply advanced computational techniques to analyze the workings of processes and systems, in this case the function of the human genome," said Royyuru. "Using these tools, we've been able to shed new light on parts of the DNA that were traditionally thought of as not having a specific purpose. We believe the innovative application of technology can provide further understanding in the life sciences at large."

 

The IBM team used a mathematical tool called pattern-discovery, often applied to mine useful information from very large repositories of data in both business and scientific applications, to sift through the approximately six billion letters in the non-coding regions of the human genome and look for repeating sequence fragments, or motifs.

 

Among the millions of discovered motifs, the team identified approximately 128,000 that also occur in the coding region of the genome and are significantly over-represented in genes involved in specific biological processes such as cell communication, regulation of transcription, transport and others. In fact, copies of one or more of these motifs can be found in over 90 percent of all known human gene sequences, as well as some genes of other animals where they associate with similar biological processes.

 

The report on this work, "Short blocks from the non-coding parts of the human genome have instances within nearly all known genes and relate to biological processes," by Isidore Rigoutsos, Tien Huynh, Kevin Miranda, Aristotelis Tsirigos, Alice McHardy and Daniel Platt of IBM's T. J. Watson Research Center, Yorktown Heights, NY appeared on April 24th in the early edition of the journal PNAS.

 

The Genographic Project is the brainchild of Dr. Spencer Wells, a pioneer in using DNA samples to map human migratory patterns. Working with Dr. Wells are researchers from IBM's Computational Biology Center – led by Dr. Royyuru – and a global team of prominent research scientists from 10 research centers around the world. Together, they are seeking answers to long-standing questions regarding man’s epic migration patterns.

 

The Genographic Project, a five-year research partnership, is using sophisticated laboratory and computer analysis of DNA contributed by hundreds of thousands of people, including indigenous peoples and members of the general public, to map how the Earth was populated.

 

The resulting public database will house one of the largest collections of human population genetic information ever assembled and will serve as an unprecedented resource for geneticists, historians and anthropologists.


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