Paper Info
Title
Visual integration of results from a large DNA biobank (BioVU) using synthesis-view.
Abstract
In this paper, we describe using Synthesis-View, a new method of presenting complex genetic data, to revisit results of a study from the BioVU Vanderbilt DNA databank. BioVU is a biorepository of DNA samples coupled with de-identified electronic medical records (EMR). In the Ritchie et al. study(1) similar to 10,000 BioVU samples were genotyped for 21 SNPs that were previously associated with 5 diseases: atrial fibrillation, Crohn Disease, multiple sclerosis, rheumatoid arthritis, and type 2 diabetes. In the proof-of-concept study, the 21 tests of association replicated previous findings where sample size provided adequate power. The majority of the BioVU results were originally presented in tabular form. Herein we have revisited the results of this study using Synthesis-View. The Synthesis-View software tool visually synthesizes the results of complex, multi-layered studies that aim to characterize associations between small numbers of single-nucleotide polymorphisms (SNPs) and diseases and/or phenotypes, such as the results of replication and meta-analysis studies. Using Synthesis-View with the data of the Ritchie et al. study and presenting these data in this integrated visual format demonstrates new ways to investigate and interpret these kinds of data. Synthesis-View is freely available for non-commercial research institutions, for full details see https://chgr.mc.vanderbilt.edu/synthesisview.
Year
Venue
Keywords
2011
Biocomputing-Pacific Symposium on Biocomputing
genome wide association study,algorithms,computer graphics,computational biology
Field
DocType
ISSN
Biobank,Software tool,Biology,Genome-wide association study,Biorepository,Single-nucleotide polymorphism,Bioinformatics,Genetics,Sample size determination
Conference
2335-6936
Citations 
PageRank 
References 
2
0.40
2
Authors
5
Name
Order
Citations
PageRank
Sarah A. Pendergrass1429.20
Scott M. Dudek220626.27
Dan M. Roden317718.14
Dana C. Crawford413714.54
Marylyn D. Ritchie569286.79