Genome Polymorphism Detection Through Relaxed de Bruijn Graph Construction

Abstract

Comparing genomes to identify polymorphisms is a difficult task, especially beyond single nucleotide poly-morphisms. Polymorphism detection is important in disease association studies as well as in phylogenetic tree reconstruc-tion. We present a method for identifying polymorphisms in genomes by using a modified version de Bruijn graphs, data structures widely used in genome assembly from Next-Generation Sequencing. Using our method, we are able to identify polymorphisms that exist within a genome as well as well as see graph structures that form in the de Bruijn graph for particular types of polymorphisms (translocations, etc.)