Genomic research emerges from collaborative work within and across different scientific disciplines. A diverse range of visualisation techniques has been employed to aid this research, yet relatively little is known as to how these techniques facilitate collaboration. We conducted a case study of collaborative research within a biomedical institute to learn more about the role visualisation plays in genomic mapping. Interviews were conducted with molecular biologists (N = 5) and bioinformaticians (N = 6). We found that genomic research comprises a variety of distinct disciplines engaged in complex analytic tasks that each resist simplification, and their complexity influences how visualisations were used. Visualisation use was impacted by group-specific interactions and temporal work patterns. Visualisations were also crucial to the scientific workflow, used for both question formation and confirmation of hypotheses, and acted as an anchor for the communication of ideas and discussion. In the latter case, two approaches were taken: providing collaborators with either interactive or static imagery representing a viewpoint. The use of generic software for simplified visualisations, and quick production and curation was also noted. We discuss these findings with reference to group-specific interactions and present recommendations for improving collaborative practices through visual analytics.

MOTIVATION: Next-generation sequencing has become routine in oncology and opens up new avenues of therapies, particularly in personalized oncology setting. An increasing number of cases also implies a need for a more robust, automated and reproducible processing of long lists of variants for cancer diagnosis and therapy. While solutions for the large-scale analysis of somatic variants have been implemented, existing solutions often have issues with reproducibility, scalability and interoperability. RESULTS: Clinical Variant Annotation Pipeline (ClinVAP) is an automated pipeline which annotates, filters and prioritizes somatic single nucleotide variants provided in variant call format. It augments the variant information with documented or predicted clinical effect. These annotated variants are prioritized based on driver gene status and druggability. ClinVAP is available as a fully containerized, self-contained pipeline maximizing reproducibility and scalability allowing the analysis of larger scale data. The resulting JSON-based report is suited for automated downstream processing, but ClinVAP can also automatically render the information into a user-defined template to yield a human-readable report. AVAILABILITY AND IMPLEMENTATION: ClinVAP is available at https://github.com/PersonalizedOncology/ClinVAP. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

BACKGROUND: New technologies have given rise to an abundance of -omics data, particularly metabolomic data. The scale of these data introduces new challenges for the interpretation and extraction of knowledge, requiring the development of innovative computational visualization methodologies. Here, we present GEM-Vis, an original method for the visualization of time-course metabolomic data within the context of metabolic network maps. We demonstrate the utility of the GEM-Vis method by examining previously published data for two cellular systems-the human platelet and erythrocyte under cold storage for use in transfusion medicine. RESULTS: The results comprise two animated videos that allow for new insights into the metabolic state of both cell types. In the case study of the platelet metabolome during storage, the new visualization technique elucidates a nicotinamide accumulation that mirrors that of hypoxanthine and might, therefore, reflect similar pathway usage. This visual analysis provides a possible explanation for why the salvage reactions in purine metabolism exhibit lower activity during the first few days of the storage period. The second case study displays drastic changes in specific erythrocyte metabolite pools at different times during storage at different temperatures. CONCLUSIONS: The new visualization technique GEM-Vis introduced in this article constitutes a well-suitable approach for large-scale network exploration and advances hypothesis generation. This method can be applied to any system with data and a metabolic map to promote visualization and understand physiology at the network level. More broadly, we hope that our approach will provide the blueprints for new visualizations of other longitudinal -omics data types. The supplement includes a comprehensive user's guide and links to a series of tutorial videos that explain how to prepare model and data files, and how to use the software SBMLsimulator in combination with further tools to create similar animations as highlighted in the case studies.

Novel visualization methods and strategies are necessary to cope with the deluge of datasets present in any scientific field to make discoveries and find answers to previously unanswered questions. These methods and strategies should not only present scientific findings as images in a concise way but also need to be effective and expressive, which often remain untested. Here, we present Versus, a tool to enable easy image quality assessment and image ranking, utilizing a two-alternative forced choice methodology (2AFC) and an efficient ranking algorithm based on a binary search. The tool provides a systematic way of setting up evaluation experiments via the web without the necessity to install any additional software or require any programming skills. Furthermore, Versus can easily interface with crowdsourcing platforms, such as Amazon’s Mechanical Turk, or can be used as a stand-alone system to carry out evaluations with experts. We demonstrate the use of Versus by means of an image evaluation study, aiming to determine if hue, saturation, brightness, and texture are good indicators of uncertainty in three-dimensional protein structures. Drawing from the power of crowdsourcing, we argue that there is demand and also great potential for this tool to become a standard for simple and fast image evaluations, with the aim to test the effectiveness and expressiveness of scientific visualizations.

We investigate task performance and reading characteristics for scatterplots (Cartesian coordinates) and parallel coordinates. In a controlled eye-tracking study, we asked 24 participants to assess the relative distance of points in multidimensional space, depending on the diagram type (parallel coordinates or a horizontal collection of scatterplots), the number of data dimensions (2, 4, 6, or 8), and the relative distance between points (15%, 20%, or 25%). For a given reference point and two target points, we instructed participants to choose the target point that was closer to the reference point in multidimensional space. We present a visual scanning model that describes different strategies to solve this retrieval task for both diagram types, and propose corresponding hypotheses that we test using task completion time, accuracy, and gaze positions as dependent variables. Our results show that scatterplots outperform parallel coordinates significantly in 2 dimensions, however, the task was solved more quickly and more accurately with parallel coordinates in 8 dimensions. The eye-tracking data further shows significant differences between Cartesian and parallel coordinates, as well as between different numbers of dimensions. For parallel coordinates, there is a clear trend toward shorter fixations and longer saccades with increasing number of dimensions. Using an area-of-interest (AOI) based approach, we identify different reading strategies for each diagram type: For parallel coordinates, the participants’ gaze frequently jumped back and forth between pairs of axes, while axes were rarely focused on when viewing Cartesian coordinates. We further found that participants’ attention is biased: toward the center of the whole plotfor parallel coordinates and skewed to the center/left side for Cartesian coordinates. We anticipate that these results may support the design of more effective visualizations for multidimensional data.

Abstract While many measures of viewpoint goodness have been proposed in computer graphics, none have been evaluated for ribbon representations of protein secondary structure. To fill this gap, we conducted a user study on Amazon's Mechanical Turk platform, collecting human viewpoint preferences from 65 participants for 4 representative superfamilies of protein domains. In particular, we evaluated viewpoint entropy, which was previously shown to be a good predictor for human viewpoint preference of other, mostly non‐abstract objects. In a second study, we asked 7 experts in molecular biology to find the best viewpoint of the same protein domains and compared their choices with viewpoint entropy. Our results indicate that viewpoint entropy overall is a significant predictor of human viewpoint preference for ribbon representations of protein secondary structure. However, the accuracy depends on the type and composition of the structure: while most participants agree on good viewpoints for structures with mainly beta sheets, viewpoint preference varies considerably for complex arrangements of alpha helices. Finally, experts tend to choose viewpoints of both low and high viewpoint entropy to emphasize different aspects of the respective structure.

BACKGROUND: To understand the molecular mechanisms that give rise to a protein's function, biologists often need to (i) find and access all related atomic-resolution 3D structures, and (ii) map sequence-based features (e.g., domains, single-nucleotide polymorphisms, post-translational modifications) onto these structures. RESULTS: To streamline these processes we recently developed Aquaria, a resource offering unprecedented access to protein structure information based on an all-against-all comparison of SwissProt and PDB sequences. In this work, we provide a requirements analysis for several frequently occuring tasks in molecular biology and describe how design choices in Aquaria meet these requirements. Finally, we show how the interface can be used to explore features of a protein and gain biologically meaningful insights in two case studies conducted by domain experts. CONCLUSIONS: The user interface design of Aquaria enables biologists to gain unprecedented access to molecular structures and simplifies the generation of insight. The tasks involved in mapping sequence features onto structures can be conducted easier and faster using Aquaria.

Abstract Multi‐dimensional data originate from many different sources and are relevant for many applications. One specific sub‐type of such data is continuous trajectory data in multi‐dimensional state spaces of complex systems. We adapt the concept of spatially continuous scatterplots and spatially continuous parallel coordinate plots to such trajectory data, leading to continuous‐time scatterplots and continuous‐time parallel coordinates. Together with a temporal heat map representation, we design coordinated views for visual analysis and interactive exploration. We demonstrate the usefulness of our visualization approach for three case studies that cover examples of complex dynamic systems: cyber‐physical systems consisting of heterogeneous sensors and actuators networks (the collection of time‐dependent sensor network data of an exemplary smart home environment), the dynamics of robot arm movement and motion characteristics of humanoids.

In 2011, the IEEE VisWeek conferences inaugurated a symposium on Biological Data Visualization. Like other domain-oriented Vis symposia, this symposium's purpose was to explore the unique characteristics and requirements of visualization within the domain, and to enhance both the Visualization and Bio/Life-Sciences communities by pushing Biological data sets and domain understanding into the Visualization community, and well-informed Visualization solutions back to the Biological community. Amongst several other activities, the BioVis symposium created a data analysis and visualization contest. Unlike many contests in other venues, where the purpose is primarily to allow entrants to demonstrate tour-de-force programming skills on sample problems with known solutions, the BioVis contest was intended to whet the participants' appetites for a tremendously challenging biological domain, and simultaneously produce viable tools for a biological grand challenge domain with no extant solutions. For this purpose expression Quantitative Trait Locus (eQTL) data analysis was selected. In the BioVis 2011 contest, we provided contestants with a synthetic eQTL data set containing real biological variation, as well as a spiked-in gene expression interaction network influenced by single nucleotide polymorphism (SNP) DNA variation and a hypothetical disease model. Contestants were asked to elucidate the pattern of SNPs and interactions that predicted an individual's disease state. 9 teams competed in the contest using a mixture of methods, some analytical and others through visual exploratory methods. Independent panels of visualization and biological experts judged entries. Awards were given for each panel's favorite entry, and an overall best entry agreed upon by both panels. Three special mention awards were given for particularly innovative and useful aspects of those entries. And further recognition was given to entries that correctly answered a bonus question about how a proposed "gene therapy" change to a SNP might change an individual's disease status, which served as a calibration for each approaches' applicability to a typical domain question. In the future, BioVis will continue the data analysis and visualization contest, maintaining the philosophy of providing new challenging questions in open-ended and dramatically underserved Bio/Life Sciences domains.

In the search for single-nucleotide polymorphisms which influence the observable phenotype, genome wide association studies have become an important technique for the identification of associations between genotype and phenotype of a diverse set of sequence-based data. We present a methodology for the visual assessment of single-nucleotide polymorphisms using interactive hierarchical aggregation techniques combined with methods known from traditional sequence browsers and cluster heatmaps. Our tool, the interactive Hierarchical Aggregation Table (iHAT), facilitates the visualization of multiple sequence alignments, associated metadata, and hierarchical clusterings. Different color maps and aggregation strategies as well as filtering options support the user in finding correlations between sequences and metadata. Similar to other visualizations such as parallel coordinates or heatmaps, iHAT relies on the human pattern-recognition ability for spotting patterns that might indicate correlation or anticorrelation. We demonstrate iHAT using artificial and real-world datasets for DNA and protein association studies as well as expression Quantitative Trait Locus data.

Abstract Continuous scatterplots and parallel coordinates are used to visualize multivariate data defined on a continuous domain. With the existing techniques, rendering such plots becomes prohibitively slow, especially for large scientific datasets. This paper presents a scalable and progressive rendering algorithm for continuous data plots that allows exploratory analysis of large datasets at interactive framerates. The algorithm employs splatting to produce a series of plots that are combined using alpha blending to achieve a progressively improving image. For each individual frame, splats are obtained by transforming Gaussian density kernels from the 3‐D domain of the input dataset to the respective data domain. A closed‐form analytic description of the resulting splat footprints is derived to allow pre‐computation of splat textures for efficient GPU rendering. The plotting method is versatile because it supports arbitrary reconstruction or interpolation schemes for the input data and the splatting technique is scalable because it chooses splat samples independently from the size of the input dataset. Finally, the effectiveness of the method is compared to existing techniques regarding rendering performance and quality.

Node-link diagrams are an effective and popular visualization approach for depicting hierarchical structures and for showing parent-child relationships. In this paper, we present the results of an eye tracking experiment investigating traditional, orthogonal, and radial node-link tree layouts as a piece of empirical basis for choosing between those layouts. Eye tracking was used to identify visual exploration behaviors of participants that were asked to solve a typical hierarchy exploration task by inspecting a static tree diagram: finding the least common ancestor of a given set of marked leaf nodes. To uncover exploration strategies, we examined fixation points, duration, and saccades of participants' gaze trajectories. For the non-radial diagrams, we additionally investigated the effect of diagram orientation by switching the position of the root node to each of the four main orientations. We also recorded and analyzed correctness of answers as well as completion times in addition to the eye movement data. We found out that traditional and orthogonal tree layouts significantly outperform radial tree layouts for the given task. Furthermore, by applying trajectory analysis techniques we uncovered that participants cross-checked their task solution more often in the radial than in the non-radial layouts.

Typical scientific data is represented on a grid with appropriate interpolation or approximation schemes,defined on a continuous domain. The visualization of such data in parallel coordinates may reveal patterns latently contained in the data and thus can improve the understanding of multidimensional relations. In this paper, we adopt the concept of continuous scatterplots for the visualization of spatially continuous input data to derive a density model for parallel coordinates. Based on the point-line duality between scatterplots and parallel coordinates, we propose a mathematical model that maps density from a continuous scatterplot to parallel coordinates and present different algorithms for both numerical and analytical computation of the resulting density field. In addition, we show how the 2-D model can be used to successively construct continuous parallel coordinates with an arbitrary number of dimensions. Since continuous parallel coordinates interpolate data values within grid cells, a scalable and dense visualization is achieved, which will be demonstrated for typical multi-variate scientific data.