Title

Genome polymorphism detection through relaxed de bruijn graph construction

Document Type

Conference Proceeding

Publication Date

7-1-2017

Journal

Proceedings - 2017 IEEE 17th International Conference on Bioinformatics and Bioengineering, BIBE 2017

Volume

2018-January

DOI

10.1109/BIBE.2017.00-53

Keywords

De Bruijn graph; Graph; GWAS; Phylogenetics; Polymorphism

ISBN

9781538613245

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.)

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