Machine Learning Reveals Unexpected Genetic Roots of Cancers, Autism and Other Disorders

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University of Toronto researchers from Engineering, Biology and Medicine teach computers to read the human genome and rate likelihood of mutations causing disease, opening vast new possibilities for medicine

Newswise (Toronto, ON Dec. 18) In the decade since the genome was sequenced in 2003, scientists and doctors have struggled to answer an all-consuming question: Which DNA mutations cause disease?

A new computational technique developed at the University of Toronto may now be able to tell us.

A Canadian research team led by professor Brendan Frey has developed the first method for ranking genetic mutations based on how living cells read DNA, revealing how likely any given alteration is to cause disease. They used their method to discover unexpected genetic determinants of autism, hereditary cancers and spinal muscular atrophy, a leading genetic cause of infant mortality.

Their findings appear in todays issue of the leading journal Science.

Think of the human genome as a mysterious text, made up of three billion letters. Over the past decade, a huge amount of effort has been invested into searching for mutations in the genome that cause disease, without a rational approach to understanding why they cause disease, says Frey, also a senior fellow at the Canadian Institute for Advanced Research.

This is because scientists didnt have the means to understand the text of the genome and how mutations in it can change the meaning of that text. Biologist Eric Lander of the Massachusetts Institute of Technology captured this puzzle in his famous quote: Genome. Bought the book. Hard to read.

What was Freys approach? We know that certain sections of the text, called exons, describe the proteins that are the building blocks of all living cells. What wasnt appreciated until recently is that other sections, called introns, contain instructions for how to cut and paste exons together, determining which proteins will be produced. This splicing process is a crucial step in the cells process of converting DNA into proteins, and its disruption is known to contribute to many diseases.

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Machine Learning Reveals Unexpected Genetic Roots of Cancers, Autism and Other Disorders