Marina Herrera Sarrias: Exonize: A Novel Framework for Studying Exon Duplications

Abstract

 Understanding the origins of protein diversity is essential for uncovering the mechanisms that drive and maintain the complexity of biological systems. The protein-coding regions of eukaryotic genes are fragmented into exons that, like the genes within which they are situated, can be duplicated, deleted, or reorganized. Cataloging and organizing within-gene exon similarities is necessary for a systematic study of exon evolution and its consequences. In this talk we present Exonize a tool to identify and classify coding exon duplications in annotated genomes. Exonize implements a graph-based framework to handle clusters of related exons resulting from repeated rounds of exon duplication. Additionally, it classifies the interdependence between duplicated exons or exon groups across transcripts and identifies duplication events between exonic and intronic regions, enabling the detection of unannotated or inactivated exons. To showcase the utility of Exonize, we will present a study investigating how exon duplications in humans impact protein function and structure.