Canadians reveal 'Rosetta Stone' for human genome

Canadian researchers have developed a computer program that could prove the Rosetta Stone of genome researchand one day translate the building blocks of everything from cancer to autism.

Scientists have had a map of the genome essentially the recipe behind each humans DNA since 2003, when the multi-billion-dollar global Human Genome Project wrapped up. But theres still no proven method to read the entire genome. Scientists have mostly understood bits and pieces that affect one specific disease until now.

Most people focus on a single disease, said Brendan Frey, a University of Toronto engineering professor and lead researcher of the new study, in an interview. Our approach is to figure out how to read the genome. If you can read the genome, then you can understand all diseases.

Babak Alipanahi, Hannes Bretschneider, Brendan Frey and Hui Xiong discuss how the splicing code is used to understand disease mutations. (Jennifer Wilson/University of Toronto)

That research, titled The human splicing code reveals new insights into the genetic determinants of disease, appears today in the journal Science, but Canada.com was provided a sneak peak of the potentially groundbreaking discovery.

Before the Rosetta Stone, ancient historians could read a couple hieroglyphs or Egyption words; after it was discovered, they could understand all of it. This discovery is similar: Frey describes the genome like a recipe book and his work as a translator to help understand whether the mix-up occurred in the ingredients or the instructions so it could be prevented or better treated down the line.

Freys use of machine learning (essentially a form of artificial intelligence that makes predictive findings based on existing data) could revolutionize how researches parse the genome and how we think about and treat disease.

To prove that the computation model works, his team applied it to investigate the causes autism, colon cancer and spinal muscular atrophy, the leading cause of infant mortality. What they found not only proved the theory that the whole genome must be examined to understand its parts, but the researchers already made new breakthroughs. They discovered 39 new genes that contribute to or cause autism.

This is a very significant paper in showing that tools like this can be used to find relevant variation in the genome, said Robert Ringle of Autism Speaks, an organization that raises funds for autism research. The way researchers looked at the genome previously only looked at small parts of it. Technology has really limited the field for a number of years. Now, whole genome sequencing allows researchers to look at, in a cost effective way, every letter in the genome, Ringle said, referring to the new research released today. In that code there are going to be answers to what causes diseases, but you need something to decode that to understand.

And thats precisely what Freys team sought to achieve.

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Canadians reveal 'Rosetta Stone' for human genome