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Brudno M.,University of Toronto | Brudno M.,Center for Computational Medicine | Brudno M.,Hospital for Sick Children
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) | Year: 2015

Gene mutations cause not only well-recognized rare diseases such as muscular dystrophy and cystic fibrosis, but also thousands of other rare disorders. While individually rare, these disorders are collectively common, affecting one to three percent of the population. The last several years have seen the identification of hundreds of novel genes responsible for rare disorders, and an even greater number of cases where a known gene was implicated in a new disease. In this talk I will describe the computational approaches that are required to make this identification possible, and describe the tools that we (and others) have developed to enable clinicians to diagnose their patients by analyzing the patient genomes and sharing de-identified patient data. © Springer International Publishing Switzerland 2015.

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