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The Pugh lab is focused on the application of genome sequence analysis as a routine clinical test, particularly as modern cancer treatments are increasingly predicated on genetic information. I am particularly interested in genome analysis of serial biopsies and circulating DNA collected during clinical trials, tumors of unknown etiology, and rare pediatric cancers. I also spend part of my time supporting clinical molecular testing as a clinical molecular geneticist through the Advanced Molecular Diagnostic
Cancers arise due to changes in genetic sequence and structure that alter the biology of normal cells. Advances in DNA sequencing technologies have enabled the detection of these alterations in nearly a million human tumours, resulting in over 680,000 unique mutations and 16,000 rearrangements that are listed in the Catalogue of Somatic Mutations in Cancer (COSMIC) as of September 2013. Large-scale studies have uncovered differing mutation rates across cancer types, with the lowest rates found in pediatric