Title
ABySS-Explorer: visualizing genome sequence assemblies.
Abstract
One bottleneck in large-scale genome sequencing projects is reconstructing the full genome sequence from the short subsequences produced by current technologies. The final stages of the genome assembly process inevitably require manual inspection of data inconsistencies and could be greatly aided by visualization. This paper presents our design decisions in translating key data features identified through discussions with analysts into a concise visual encoding. Current visualization tools in this domain focus on local sequence errors making high-level inspection of the assembly difficult if not impossible. We present a novel interactive graph display, ABySS-Explorer, that emphasizes the global assembly structure while also integrating salient data features such as sequence length. Our tool replaces manual and in some cases pen-and-paper based analysis tasks, and we discuss how user feedback was incorporated into iterative design refinements. Finally, we touch on applications of this representation not initially considered in our design phase, suggesting the generality of this encoding for DNA sequence data.
Year
DOI
Venue
2009
10.1109/TVCG.2009.116
IEEE transactions on visualization and computer graphics
Keywords
Field
DocType
genome assembly process,genome sequencing projects,dna,dna sequence data,abyss-explorer,genomics,user feedback,interactive graph display,design study,pen-and-paper based analysis tasks,data visualisation,dna sequence,bioinformatics visualization,interactive systems,bioinformatics,visualization tools,genome sequence assemblies,genome assembly
Data science,Bottleneck,Data visualization,Information retrieval,Visualization,Computer science,Genomics,Theoretical computer science,Iterative design,Computer graphics,Sequence assembly,Encoding (memory)
Journal
Volume
Issue
ISSN
15
6
1077-2626
Citations 
PageRank 
References 
21
1.37
6
Authors
4
Name
Order
Citations
PageRank
Cydney B Nielsen1554.78
Shaun D Jackman2727.37
Inanc Birol3789.34
Steven J. M. Jones457871.55