Ben Raphael and his collaborators at Washington University in St. Louis have been awarded a five-year year grant from the National Institutes of Health (NIH), in the expected amount of $2.5 million, for their project “Computational Approaches For Structural Variation Studies In Genomes.” The proposed project will develop novel computational techniques to study structural variation, an important class of differences that distinguish individual genome sequences. Structural variants include duplications, insertions, deletions, inversions, and translocations of large blocks of DNA sequence. These differences have been implicated in several human diseases including autism and cancer. New genome technologies are enabling large-scale measurement of these variants, but application of these technologies demand new methods to interpret the resulting data.
Ben and his collaborators will develop computational approaches to facilitate the identification and characterization of structural variants. These approaches will be applied to data from human, cancer, mouse, and pathogen genomes in collaboration with several biomedical researchers. The proposed research will aid in the discovery of genetic variants associated with various human diseases, which in turn could lead to better diagnostics and/or personalized treatments for these diseases.
