ABI Innovation: A Novel Framework for Detecting Genomic Structural Variation

Genomic structural variation has been identified as a significant contributor to phenotype diversity across a wide phylogenetic spectrum, including humans, vertebrates, nematodes, insects, and plants. These variants are large polymorphic regions of chromosomes that contain rearrangement of DNA. While numerous tools exist for detecting these variants from sequencing data, they are not able to accurately resolve regions with a high repetitive content or variants with a complex structure. This project addresses the algorithmic limitations of current approaches and develops tools to enable the identification of these complex and repetitive variants. It also develops a computational platform to facilitate the development of advanced tools by other members of the research community.

Understanding the role that genomic variation plays is one of the major scientific challenges and opportunities facing society today. The improved detection of these variants will have an impact across a wide range of biological areas, including population genetics, evolutionary developmental biology, and plant genomics. It will also lead to better understanding of the mechanisms behind devastating diseases such as cancer, where complex and repetitive elements have been shown to play an important role. To educate future leaders in this important field, the project will develop graduate and undergraduate classes to train future generations of scientists and engineers and to advance the collaborative frontiers of biology and computer science. Strong efforts will be made to promote diversity through recruitment of students from under-represented groups.