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When people go to a doctor, they want to be treated for what ails them and they want to be treated in a way that is most appropriate for them. This is the ultimate goal, often called personalized medicine. To accomplish this, doctors will need to know the complete set of genetic mutations in a patient. This will have a dramatic impact on the capacity of doctors to understand the causes of disease or risks for diseases and also to recommend appropriate treatments.

New technologies are transforming human genetics by making the complete DNA sequence, or genome, of individuals available at affordable prices. The challenge now lies in the creation of software to perform detailed analysis of their genome. Around the world, thousands of scientists are working to create computer programs that will allow for low cost and high speed genomic analyses required to make the new advances available for use in personalized medicine.

Within this project, they have developed a set of software tools to understand and categorize the pieces of the DNA that help to turn genes on or off. These bits of DNA are spread throughout the human genome, and serve a critical role in controlling when and where genes are active. While only 3% of the genome is used to make RNA and proteins, up to 80% of it participates in the on/off switches. Mutations in these switches can cause birth defects, risk for disease and susceptibility to adverse drug reactions. The ABC4DE project has built upon the success of databases and software created in their Canadian lab. From this competitive advantage, the ABC4DE project has delivered multiple software for the analysis of mutations at on/off switches, published more than 35 articles in peer-reviewed biomedical journals, and leveraged more than $2.3M funding. This has supported Canada in extending its international prominence in genome analysis.