BigTop: a three-dimensional virtual reality tool for GWAS visualization. 2020

Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
DNAnexus, Inc., Mountain View, CA, USA. swestreich@dnanexus.com.

BACKGROUND Genome-wide association studies (GWAS) are typically visualized using a two-dimensional Manhattan plot, displaying chromosomal location of SNPs along the x-axis and the negative log-10 of their p-value on the y-axis. This traditional plot provides a broad overview of the results, but offers little opportunity for interaction or expansion of specific regions, and is unable to show additional dimensions of the dataset. RESULTS We created BigTop, a visualization framework in virtual reality (VR), designed to render a Manhattan plot in three dimensions, wrapping the graph around the user in a simulated cylindrical room. BigTop uses the z-axis to display minor allele frequency of each SNP, allowing for the identification of allelic variants of genes. BigTop also offers additional interactivity, allowing users to select any individual SNP and receive expanded information, including SNP name, exact values, and gene location, if applicable. BigTop is built in JavaScript using the React and A-Frame frameworks, and can be rendered using commercially available VR headsets or in a two-dimensional web browser such as Google Chrome. Data is read into BigTop in JSON format, and can be provided as either JSON or a tab-separated text file. CONCLUSIONS Using additional dimensions and interactivity options offered through VR, we provide a new, interactive, three-dimensional representation of the traditional Manhattan plot for displaying and exploring GWAS data.

UI MeSH Term Description Entries
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000076142 Virtual Reality Using computer technology to create and maintain an environment and project a user's physical presence in that environment allowing the user to interact with it. Virtual Reality, Educational,Virtual Reality, Instructional,Educational Virtual Realities,Educational Virtual Reality,Instructional Virtual Realities,Instructional Virtual Reality,Realities, Instructional Virtual,Reality, Educational Virtual,Reality, Instructional Virtual,Reality, Virtual,Virtual Realities, Educational,Virtual Realities, Instructional
D012984 Software Sequential operating programs and data which instruct the functioning of a digital computer. Computer Programs,Computer Software,Open Source Software,Software Engineering,Software Tools,Computer Applications Software,Computer Programs and Programming,Computer Software Applications,Application, Computer Software,Applications Software, Computer,Applications Softwares, Computer,Applications, Computer Software,Computer Applications Softwares,Computer Program,Computer Software Application,Engineering, Software,Open Source Softwares,Program, Computer,Programs, Computer,Software Application, Computer,Software Applications, Computer,Software Tool,Software, Computer,Software, Computer Applications,Software, Open Source,Softwares, Computer Applications,Softwares, Open Source,Source Software, Open,Source Softwares, Open,Tool, Software,Tools, Software
D014584 User-Computer Interface The portion of an interactive computer program that issues messages to and receives commands from a user. Interface, User Computer,Virtual Systems,User Computer Interface,Interface, User-Computer,Interfaces, User Computer,Interfaces, User-Computer,System, Virtual,Systems, Virtual,User Computer Interfaces,User-Computer Interfaces,Virtual System
D016678 Genome The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA. Genomes
D055106 Genome-Wide Association Study An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers to identify gene candidates or quantitative trait loci associated with a specific organism trait or specific disease or condition. Genome Wide Association Analysis,Genome Wide Association Study,GWA Study,Genome Wide Association Scan,Genome Wide Association Studies,Whole Genome Association Analysis,Whole Genome Association Study,Association Studies, Genome-Wide,Association Study, Genome-Wide,GWA Studies,Genome-Wide Association Studies,Studies, GWA,Studies, Genome-Wide Association,Study, GWA,Study, Genome-Wide Association
D019295 Computational Biology A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets. Bioinformatics,Molecular Biology, Computational,Bio-Informatics,Biology, Computational,Computational Molecular Biology,Bio Informatics,Bio-Informatic,Bioinformatic,Biologies, Computational Molecular,Biology, Computational Molecular,Computational Molecular Biologies,Molecular Biologies, Computational
D020641 Polymorphism, Single Nucleotide A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. SNPs,Single Nucleotide Polymorphism,Nucleotide Polymorphism, Single,Nucleotide Polymorphisms, Single,Polymorphisms, Single Nucleotide,Single Nucleotide Polymorphisms

Related Publications

Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
January 2018, IEEE transactions on visualization and computer graphics,
Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
January 2013, Studies in health technology and informatics,
Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
January 2022, Ochsner journal,
Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
November 2019, World neurosurgery,
Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
May 2019, The journal of vascular access,
Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
November 2002, Academic radiology,
Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
July 2022, World journal of gastrointestinal surgery,
Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
June 2022, Morphologie : bulletin de l'Association des anatomistes,
Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
May 2010, Nan fang yi ke da xue xue bao = Journal of Southern Medical University,
Samuel T Westreich, and Maria Nattestad, and Christopher Meyer
March 2019, Journal of molecular biology,
Copied contents to your clipboard!