Machine learning reveals unexpected genetic roots of cancers, autism and other disorders

In the decade since the genome was sequenced in 2003, scientists, engineers 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 engineering and medicine professor Brendan Frey (ECE) 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.