University of Buffalo, New York, USA
Title: Evolutionary and functional characterization of genomic deletions in humans
Abstract: A systematic characterization of the function and evolution of structural variants remains an imperative exercise. Here, we show that balancing selection is a significant evolutionary force responsible for the maintenance of ancient deletion polymorphisms, and provide a functional characterization of these deletions. However, many deletions are not in strong linkage-disequilibrium (LD) with single nucleotide variants (SNVs), precluding such functional characterization. To solve this problem, we discuss a new methodology that uses a combination of SNVs weakly in LD with a deletion to impute the deletion, thereby allowing investigation into the function of many more deletions.