Genome Polymorphism Detection Through Relaxed de Bruijn Graph Construction

M. Stanley Fujimoto, Cole Lyman, Anton Suvorov, Paul Bodily, Quinn Snell, Keith Crandall, Seth Bybee, Mark Clement
2017 2017 IEEE 17th International Conference on Bioinformatics and Bioengineering (BIBE)  
Comparing genomes to identify polymorphisms is a difficult task, especially beyond single nucleotide polymorphisms. Polymorphism detection is important in disease association studies as well as in phylogenetic tree reconstruction. 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
more » ... xist 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.)
doi:10.1109/bibe.2017.00-53 dblp:conf/bibe/FujimotoLSBSCBC17 fatcat:rlyl42lawvf3dak2ulddkfuumy