Visualisation of Interactions between Single Nucleotide Polymorphisms and Structural Variants

Abstract

in bio-informatics visualisations are often used to relay the results of genome-wide association studies (GWAS), which can be used to get a better inside into the genetics of diseases. Over the years many websites have been developed, which can create visualisations for a variety of GWAS, with one of the most famous being locuszoom. Recent advancements in technology have allowed for collection of data which wasn't previously possible and which no visualisation tool currently supports. For the first time it is now possible to collect data on the interactions between two different types of genetic mutations: Single Nucleotide Polymorphisms, which consist of a single change in one nucleotide (one letter in a string of DNA) and Structural Variants, which consist of a change in a series of nucleotides. This paper builds upon an already existing visualisation tool snpxplorer and the goal is to design a visualisation, which captures thesse interactions and to add a new, easily integratable section to snpxplorer containing this new visualisation.