WASP: a Web-based Allele-Specific PCR assay designing tool for detecting SNPs and mutations

Directory of Open Access Journals (Sweden)

Assawamakin Anunchai

2007-08-01

Full Text Available Abstract Background Allele-specific (AS Polymerase Chain Reaction is a convenient and inexpensive method for genotyping Single Nucleotide Polymorphisms (SNPs and mutations. It is applied in many recent studies including population genetics, molecular genetics and pharmacogenomics. Using known AS primer design tools to create primers leads to cumbersome process to inexperience users since information about SNP/mutation must be acquired from public databases prior to the design. Furthermore, most of these tools do not offer the mismatch enhancement to designed primers. The available web applications do not provide user-friendly graphical input interface and intuitive visualization of their primer results. Results This work presents a web-based AS primer design application called WASP. This tool can efficiently design AS primers for human SNPs as well as mutations. To assist scientists with collecting necessary information about target polymorphisms, this tool provides a local SNP database containing over 10 million SNPs of various populations from public domain databases, namely NCBI dbSNP, HapMap and JSNP respectively. This database is tightly integrated with the tool so that users can perform the design for existing SNPs without going off the site. To guarantee specificity of AS primers, the proposed system incorporates a primer specificity enhancement technique widely used in experiment protocol. In particular, WASP makes use of different destabilizing effects by introducing one deliberate 'mismatch' at the penultimate (second to last of the 3'-end base of AS primers to improve the resulting AS primers. Furthermore, WASP offers graphical user interface through scalable vector graphic (SVG draw that allow users to select SNPs and graphically visualize designed primers and their conditions. Conclusion WASP offers a tool for designing AS primers for both SNPs and mutations. By integrating the database for known SNPs (using gene ID or rs number

Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints

OpenAIRE

Schwessinger, R; Suciu, MC; McGowan, SJ; Telenius, J; Taylor, S; Higgs, DR; Hughes, JR

2017-01-01

In the era of genome-wide association studies (GWAS) and personalized medicine, predicting the impact of single nucleotide polymorphisms (SNPs) in regulatory elements is an important goal. Current approaches to determine the potential of regulatory SNPs depend on inadequate knowledge of cell-specific DNA binding motifs. Here, we present Sasquatch, a new computational approach that uses DNase footprint data to estimate and visualize the effects of noncoding variants on transcription factor bin...

Potentially functional SNPs (pfSNPs as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Directory of Open Access Journals (Sweden)

Jingbo Wang

Full Text Available 5-Fluorouracil (5-FU and its pro-drug Capecitabine have been widely used in treating colorectal cancer. However, not all patients will respond to the drug, hence there is a need to develop reliable early predictive biomarkers for 5-FU response. Here, we report a novel potentially functional Single Nucleotide Polymorphism (pfSNP approach to identify SNPs that may serve as predictive biomarkers of response to 5-FU in Chinese metastatic colorectal cancer (CRC patients. 1547 pfSNPs and one variable number tandem repeat (VNTR in 139 genes in 5-FU drug (both PK and PD pathway and colorectal cancer disease pathways were examined in 2 groups of CRC patients. Shrinkage of liver metastasis measured by RECIST criteria was used as the clinical end point. Four non-responder-specific pfSNPs were found to account for 37.5% of all non-responders (P<0.0003. Five additional pfSNPs were identified from a multivariate model (AUC under ROC = 0.875 that was applied for all other pfSNPs, excluding the non-responder-specific pfSNPs. These pfSNPs, which can differentiate the other non-responders from responders, mainly reside in tumor suppressor genes or genes implicated in colorectal cancer risk. Hence, a total of 9 novel SNPs with potential functional significance may be able to distinguish non-responders from responders to 5-FU. These pfSNPs may be useful biomarkers for predicting response to 5-FU.

Interactions between SNPs affecting inflammatory response genes are associated with multiple myeloma disease risk and survival

DEFF Research Database (Denmark)

Nielsen, Kaspar René; Rodrigo-Domingo, Maria; Steffensen, Rudi

2017-01-01

The origin of multiple myeloma depends on interactions with stromal cells in the course of normal B-cell differentiation and evolution of immunity. The concept of the present study is that genes involved in MM pathogenesis, such as immune response genes, can be identified by screening for single......3L1 gene promoters. The occurrence of single polymorphisms, haplotypes and SNP-SNP interactions were statistically analyzed for association with disease risk and outcome following high-dose therapy. Identified genes that carried SNPs or haplotypes that were identified as risk or prognostic factors......= .005). The 'risk genes' were analyzed for expression in normal B-cell subsets (N = 6) from seven healthy donors and we found TNFA and IL-6 expressed both in naïve and in memory B cells when compared to preBI, II, immature and plasma cells. The 'prognosis genes' CHI3L1, IL-6 and IL-10 were differential...

Visual exploration and analysis of human-robot interaction rules

Science.gov (United States)

Zhang, Hui; Boyles, Michael J.

2013-01-01

We present a novel interaction paradigm for the visual exploration, manipulation and analysis of human-robot interaction (HRI) rules; our development is implemented using a visual programming interface and exploits key techniques drawn from both information visualization and visual data mining to facilitate the interaction design and knowledge discovery process. HRI is often concerned with manipulations of multi-modal signals, events, and commands that form various kinds of interaction rules. Depicting, manipulating and sharing such design-level information is a compelling challenge. Furthermore, the closed loop between HRI programming and knowledge discovery from empirical data is a relatively long cycle. This, in turn, makes design-level verification nearly impossible to perform in an earlier phase. In our work, we exploit a drag-and-drop user interface and visual languages to support depicting responsive behaviors from social participants when they interact with their partners. For our principal test case of gaze-contingent HRI interfaces, this permits us to program and debug the robots' responsive behaviors through a graphical data-flow chart editor. We exploit additional program manipulation interfaces to provide still further improvement to our programming experience: by simulating the interaction dynamics between a human and a robot behavior model, we allow the researchers to generate, trace and study the perception-action dynamics with a social interaction simulation to verify and refine their designs. Finally, we extend our visual manipulation environment with a visual data-mining tool that allows the user to investigate interesting phenomena such as joint attention and sequential behavioral patterns from multiple multi-modal data streams. We have created instances of HRI interfaces to evaluate and refine our development paradigm. As far as we are aware, this paper reports the first program manipulation paradigm that integrates visual programming

Applying Pragmatics Principles for Interaction with Visual Analytics.

Science.gov (United States)

Hoque, Enamul; Setlur, Vidya; Tory, Melanie; Dykeman, Isaac

2018-01-01

Interactive visual data analysis is most productive when users can focus on answering the questions they have about their data, rather than focusing on how to operate the interface to the analysis tool. One viable approach to engaging users in interactive conversations with their data is a natural language interface to visualizations. These interfaces have the potential to be both more expressive and more accessible than other interaction paradigms. We explore how principles from language pragmatics can be applied to the flow of visual analytical conversations, using natural language as an input modality. We evaluate the effectiveness of pragmatics support in our system Evizeon, and present design considerations for conversation interfaces to visual analytics tools.

Collaborative interactive visualization: exploratory concept

Science.gov (United States)

Mokhtari, Marielle; Lavigne, Valérie; Drolet, Frédéric

2015-05-01

Dealing with an ever increasing amount of data is a challenge that military intelligence analysts or team of analysts face day to day. Increased individual and collective comprehension goes through collaboration between people. Better is the collaboration, better will be the comprehension. Nowadays, various technologies support and enhance collaboration by allowing people to connect and collaborate in settings as varied as across mobile devices, over networked computers, display walls, tabletop surfaces, to name just a few. A powerful collaboration system includes traditional and multimodal visualization features to achieve effective human communication. Interactive visualization strengthens collaboration because this approach is conducive to incrementally building a mental assessment of the data meaning. The purpose of this paper is to present an overview of the envisioned collaboration architecture and the interactive visualization concepts underlying the Sensemaking Support System prototype developed to support analysts in the context of the Joint Intelligence Collection and Analysis Capability project at DRDC Valcartier. It presents the current version of the architecture, discusses future capabilities to help analyst(s) in the accomplishment of their tasks and finally recommends collaboration and visualization technologies allowing to go a step further both as individual and as a team.

Interactive Visualization of Healthcare Data Using Tableau.

Science.gov (United States)

Ko, Inseok; Chang, Hyejung

2017-10-01

Big data analysis is receiving increasing attention in many industries, including healthcare. Visualization plays an important role not only in intuitively showing the results of data analysis but also in the whole process of collecting, cleaning, analyzing, and sharing data. This paper presents a procedure for the interactive visualization and analysis of healthcare data using Tableau as a business intelligence tool. Starting with installation of the Tableau Desktop Personal version 10.3, this paper describes the process of understanding and visualizing healthcare data using an example. The example data of colon cancer patients were obtained from health insurance claims in years 2012 and 2013, provided by the Health Insurance Review and Assessment Service. To explore the visualization of healthcare data using Tableau for beginners, this paper describes the creation of a simple view for the average length of stay of colon cancer patients. Since Tableau provides various visualizations and customizations, the level of analysis can be increased with small multiples, view filtering, mark cards, and Tableau charts. Tableau is a software that can help users explore and understand their data by creating interactive visualizations. The software has the advantages that it can be used in conjunction with almost any database, and it is easy to use by dragging and dropping to create an interactive visualization expressing the desired format.

Supporting interactive visual analytics of energy behavior in buildings through affine visualizations

DEFF Research Database (Denmark)

Nielsen, Matthias; Brewer, Robert S.; Grønbæk, Kaj

2016-01-01

Domain experts dealing with big data are typically not familiar with advanced data mining tools. This especially holds true for domain experts within energy management. In this paper, we introduce a visual analytics approach that empowers such users to visually analyze energy behavior based......Viz, that interactively maps data from real world buildings. It is an overview +detail inter-active visual analytics tool supporting both rapid ad hoc explorations and structured evaluation of hypotheses about patterns and anomalies in resource consumption data mixed with occupant survey data. We have evaluated...... the approach with five domain experts within energy management, and further with 10 data analytics experts and found that it was easily attainable and that it supported visual analysis of mixed consumption and survey data. Finally, we discuss future perspectives of affine visual analytics for mixed...

Visualization of protein interaction networks: problems and solutions

Directory of Open Access Journals (Sweden)

Agapito Giuseppe

2013-01-01

Full Text Available Abstract Background Visualization concerns the representation of data visually and is an important task in scientific research. Protein-protein interactions (PPI are discovered using either wet lab techniques, such mass spectrometry, or in silico predictions tools, resulting in large collections of interactions stored in specialized databases. The set of all interactions of an organism forms a protein-protein interaction network (PIN and is an important tool for studying the behaviour of the cell machinery. Since graphic representation of PINs may highlight important substructures, e.g. protein complexes, visualization is more and more used to study the underlying graph structure of PINs. Although graphs are well known data structures, there are different open problems regarding PINs visualization: the high number of nodes and connections, the heterogeneity of nodes (proteins and edges (interactions, the possibility to annotate proteins and interactions with biological information extracted by ontologies (e.g. Gene Ontology that enriches the PINs with semantic information, but complicates their visualization. Methods In these last years many software tools for the visualization of PINs have been developed. Initially thought for visualization only, some of them have been successively enriched with new functions for PPI data management and PIN analysis. The paper analyzes the main software tools for PINs visualization considering four main criteria: (i technology, i.e. availability/license of the software and supported OS (Operating System platforms; (ii interoperability, i.e. ability to import/export networks in various formats, ability to export data in a graphic format, extensibility of the system, e.g. through plug-ins; (iii visualization, i.e. supported layout and rendering algorithms and availability of parallel implementation; (iv analysis, i.e. availability of network analysis functions, such as clustering or mining of the graph, and the

Interactive Terascale Particle Visualization

Science.gov (United States)

Ellsworth, David; Green, Bryan; Moran, Patrick

2004-01-01

This paper describes the methods used to produce an interactive visualization of a 2 TB computational fluid dynamics (CFD) data set using particle tracing (streaklines). We use the method introduced by Bruckschen et al. [2001] that pre-computes a large number of particles, stores them on disk using a space-filling curve ordering that minimizes seeks, and then retrieves and displays the particles according to the user's command. We describe how the particle computation can be performed using a PC cluster, how the algorithm can be adapted to work with a multi-block curvilinear mesh, and how the out-of-core visualization can be scaled to 296 billion particles while still achieving interactive performance on PG hardware. Compared to the earlier work, our data set size and total number of particles are an order of magnitude larger. We also describe a new compression technique that allows the lossless compression of the particles by 41% and speeds the particle retrieval by about 30%.

Query2Question: Translating Visualization Interaction into Natural Language.

Science.gov (United States)

Nafari, Maryam; Weaver, Chris

2015-06-01

Richly interactive visualization tools are increasingly popular for data exploration and analysis in a wide variety of domains. Existing systems and techniques for recording provenance of interaction focus either on comprehensive automated recording of low-level interaction events or on idiosyncratic manual transcription of high-level analysis activities. In this paper, we present the architecture and translation design of a query-to-question (Q2Q) system that automatically records user interactions and presents them semantically using natural language (written English). Q2Q takes advantage of domain knowledge and uses natural language generation (NLG) techniques to translate and transcribe a progression of interactive visualization states into a visual log of styled text that complements and effectively extends the functionality of visualization tools. We present Q2Q as a means to support a cross-examination process in which questions rather than interactions are the focus of analytic reasoning and action. We describe the architecture and implementation of the Q2Q system, discuss key design factors and variations that effect question generation, and present several visualizations that incorporate Q2Q for analysis in a variety of knowledge domains.

Scientific Visualization of Radio Astronomy Data using Gesture Interaction

Science.gov (United States)

Mulumba, P.; Gain, J.; Marais, P.; Woudt, P.

2015-09-01

MeerKAT in South Africa (Meer = More Karoo Array Telescope) will require software to help visualize, interpret and interact with multidimensional data. While visualization of multi-dimensional data is a well explored topic, little work has been published on the design of intuitive interfaces to such systems. More specifically, the use of non-traditional interfaces (such as motion tracking and multi-touch) has not been widely investigated within the context of visualizing astronomy data. We hypothesize that a natural user interface would allow for easier data exploration which would in turn lead to certain kinds of visualizations (volumetric, multidimensional). To this end, we have developed a multi-platform scientific visualization system for FITS spectral data cubes using VTK (Visualization Toolkit) and a natural user interface to explore the interaction between a gesture input device and multidimensional data space. Our system supports visual transformations (translation, rotation and scaling) as well as sub-volume extraction and arbitrary slicing of 3D volumetric data. These tasks were implemented across three prototypes aimed at exploring different interaction strategies: standard (mouse/keyboard) interaction, volumetric gesture tracking (Leap Motion controller) and multi-touch interaction (multi-touch monitor). A Heuristic Evaluation revealed that the volumetric gesture tracking prototype shows great promise for interfacing with the depth component (z-axis) of 3D volumetric space across multiple transformations. However, this is limited by users needing to remember the required gestures. In comparison, the touch-based gesture navigation is typically more familiar to users as these gestures were engineered from standard multi-touch actions. Future work will address a complete usability test to evaluate and compare the different interaction modalities against the different visualization tasks.

Storytelling in Interactive 3D Geographic Visualization Systems

Directory of Open Access Journals (Sweden)

Matthias Thöny

2018-03-01

Full Text Available The objective of interactive geographic maps is to provide geographic information to a large audience in a captivating and intuitive way. Storytelling helps to create exciting experiences and to explain complex or otherwise hidden relationships of geospatial data. Furthermore, interactive 3D applications offer a wide range of attractive elements for advanced visual story creation and offer the possibility to convey the same story in many different ways. In this paper, we discuss and analyze storytelling techniques in 3D geographic visualizations so that authors and developers working with geospatial data can use these techniques to conceptualize their visualization and interaction design. Finally, we outline two examples which apply the given concepts.

Interactions of visual attention and quality perception

NARCIS (Netherlands)

Redi, J.A.; Liu, H.; Zunino, R.; Heynderickx, I.E.J.R.

2011-01-01

Several attempts to integrate visual saliency information in quality metrics are described in literature, albeit with contradictory results. The way saliency is integrated in quality metrics should reflect the mechanisms underlying the interaction between image quality assessment and visual

Interactive Collaborative Visualization in the Geosciences

Science.gov (United States)

Bollig, E. F.; Kadlec, B. J.; Erlebacher, G.; Yuen, D. A.; Palchuk, Y. M.

2004-12-01

Datasets in the earth sciences continue growing in size due to higher experimental resolving power, and numerical simulations at higher resolutions. Over the last several years, an increasing number of scientists have turned to visualization to represent their vast datasets in a meaningful fashion. In most cases, datasets are downloaded and then visualized on a local workstation with 2D or 3D software packages. However, it becomes inconvenient to download datasets of several gigabytes unless network bandwidth is sufficiently high (10 Gbits/sec). We are investigating the use of Virtual Network Computing (VNC) to provide interactive three-dimensional visualization services to the user community. Specialized software [1,2] enables OpenGL-based visualization software to capitalize on the hardware capabilities of modern graphics cards and transfer session information to clients through the VNC protocol. The virtue of this software is that it does not require any changes to visualization software. Session information is displayed within java applets, enabling the use of a wide variety of clients, including hand-held devices. The VNC protocol makes collaboration and interaction between multiple users possible. We demonstrate the collaborative VNC system with the commercial 3D visualization system Amira (http://www.tgs.com) and the open source VTK (http://www.vtk.org) over a 100 Mbit network. We also present ongoing work for integrating VNC within the Naradabrokering Grid environment. [1] Stegmaier, S. and Magallon, M. and T. Ertl, "A Generic Solution for Hardware-Accelerated Remote Visualization," Joint Eurographics -- IEEE TCVG Symposium on Visualization, 2002. [2] VirtualGL--3D without boundaries http://virtualgl.sourceforge.net/installation.htm

Novel Scientific Visualization Interfaces for Interactive Information Visualization and Sharing

Science.gov (United States)

Demir, I.; Krajewski, W. F.

2012-12-01

As geoscientists are confronted with increasingly massive datasets from environmental observations to simulations, one of the biggest challenges is having the right tools to gain scientific insight from the data and communicate the understanding to stakeholders. Recent developments in web technologies make it easy to manage, visualize and share large data sets with general public. Novel visualization techniques and dynamic user interfaces allow users to interact with data, and modify the parameters to create custom views of the data to gain insight from simulations and environmental observations. This requires developing new data models and intelligent knowledge discovery techniques to explore and extract information from complex computational simulations or large data repositories. Scientific visualization will be an increasingly important component to build comprehensive environmental information platforms. This presentation provides an overview of the trends and challenges in the field of scientific visualization, and demonstrates information visualization and communication tools in the Iowa Flood Information System (IFIS), developed within the light of these challenges. The IFIS is a web-based platform developed by the Iowa Flood Center (IFC) to provide access to and visualization of flood inundation maps, real-time flood conditions, flood forecasts both short-term and seasonal, and other flood-related data for communities in Iowa. The key element of the system's architecture is the notion of community. Locations of the communities, those near streams and rivers, define basin boundaries. The IFIS provides community-centric watershed and river characteristics, weather (rainfall) conditions, and streamflow data and visualization tools. Interactive interfaces allow access to inundation maps for different stage and return period values, and flooding scenarios with contributions from multiple rivers. Real-time and historical data of water levels, gauge heights, and

Interactive Visual Intervention Planning: Interactive Visualization for Intervention Planning in Particle Accelerator Environments with Ionizing Radiation

CERN Document Server

Fabry, Thomas; Feral, Bruno

2013-01-01

Intervention planning is crucial for maintenance operations in particle accelerator environments with ionizing radiation, during which the radiation dose contracted by maintenance workers should be reduced to a minimum. In this context, we discuss the visualization aspects of a new software tool, which integrates interactive exploration of a scene depicting an accelerator facility augmented with residual radiation level simulations, with the visualization of intervention data such as the followed trajectory and maintenance tasks. The visualization of each of these aspects has its effect on the final predicted contracted radiation dose. In this context, we explore the possible benefits of a user study, with the goal of enhancing the visual conditions in which the intervention planner using the software tool is minimizing the radiation dose.

Trends in interactive visualization state-of-the-art survey

CERN Document Server

Wu, Xindong

2008-01-01

The purpose of Interactive Visualization is to develop scientific methods to increase scientists'' abilities to explore data and to understand better the results of experiments based on extensive calculations. This book provides readers with insight in Interactive Visualization from various perspectives, representing the developments in the field.

Interactive visual exploration and analysis of origin-destination data

Science.gov (United States)

Ding, Linfang; Meng, Liqiu; Yang, Jian; Krisp, Jukka M.

2018-05-01

In this paper, we propose a visual analytics approach for the exploration of spatiotemporal interaction patterns of massive origin-destination data. Firstly, we visually query the movement database for data at certain time windows. Secondly, we conduct interactive clustering to allow the users to select input variables/features (e.g., origins, destinations, distance, and duration) and to adjust clustering parameters (e.g. distance threshold). The agglomerative hierarchical clustering method is applied for the multivariate clustering of the origin-destination data. Thirdly, we design a parallel coordinates plot for visualizing the precomputed clusters and for further exploration of interesting clusters. Finally, we propose a gradient line rendering technique to show the spatial and directional distribution of origin-destination clusters on a map view. We implement the visual analytics approach in a web-based interactive environment and apply it to real-world floating car data from Shanghai. The experiment results show the origin/destination hotspots and their spatial interaction patterns. They also demonstrate the effectiveness of our proposed approach.

Interactive visual exploration of a trillion particles

KAUST Repository

Schatz, Karsten

2017-03-10

We present a method for the interactive exploration of tera-scale particle data sets. Such data sets arise from molecular dynamics, particle-based fluid simulation, and astrophysics. Our visualization technique provides a focus+context view of the data that runs interactively on commodity hardware. The method is based on a hybrid multi-scale rendering architecture, which renders the context as a hierarchical density volume. Fine details in the focus are visualized using direct particle rendering. In addition, clusters like dark matter halos can be visualized as semi-transparent spheres enclosing the particles. Since the detail data is too large to be stored in main memory, our approach uses an out-of-core technique that streams data on demand. Our technique is designed to take advantage of a dual-GPU configuration, in which the workload is split between the GPUs based on the type of data. Structural features in the data are visually enhanced using advanced rendering and shading techniques. To allow users to easily identify interesting locations even in overviews, both the focus and context view use color tables to show data attributes on the respective scale. We demonstrate that our technique achieves interactive performance on a one trillionpar-ticle data set from the DarkSky simulation.

Interactive Visual Analysis within Dynamic Ocean Models

Science.gov (United States)

Butkiewicz, T.

2012-12-01

The many observation and simulation based ocean models available today can provide crucial insights for all fields of marine research and can serve as valuable references when planning data collection missions. However, the increasing size and complexity of these models makes leveraging their contents difficult for end users. Through a combination of data visualization techniques, interactive analysis tools, and new hardware technologies, the data within these models can be made more accessible to domain scientists. We present an interactive system that supports exploratory visual analysis within large-scale ocean flow models. The currents and eddies within the models are illustrated using effective, particle-based flow visualization techniques. Stereoscopic displays and rendering methods are employed to ensure that the user can correctly perceive the complex 3D structures of depth-dependent flow patterns. Interactive analysis tools are provided which allow the user to experiment through the introduction of their customizable virtual dye particles into the models to explore regions of interest. A multi-touch interface provides natural, efficient interaction, with custom multi-touch gestures simplifying the otherwise challenging tasks of navigating and positioning tools within a 3D environment. We demonstrate the potential applications of our visual analysis environment with two examples of real-world significance: Firstly, an example of using customized particles with physics-based behaviors to simulate pollutant release scenarios, including predicting the oil plume path for the 2010 Deepwater Horizon oil spill disaster. Secondly, an interactive tool for plotting and revising proposed autonomous underwater vehicle mission pathlines with respect to the surrounding flow patterns predicted by the model; as these survey vessels have extremely limited energy budgets, designing more efficient paths allows for greater survey areas.

An interactive visualization tool for mobile objects

Science.gov (United States)

Kobayashi, Tetsuo

Recent advancements in mobile devices---such as Global Positioning System (GPS), cellular phones, car navigation system, and radio-frequency identification (RFID)---have greatly influenced the nature and volume of data about individual-based movement in space and time. Due to the prevalence of mobile devices, vast amounts of mobile objects data are being produced and stored in databases, overwhelming the capacity of traditional spatial analytical methods. There is a growing need for discovering unexpected patterns, trends, and relationships that are hidden in the massive mobile objects data. Geographic visualization (GVis) and knowledge discovery in databases (KDD) are two major research fields that are associated with knowledge discovery and construction. Their major research challenges are the integration of GVis and KDD, enhancing the ability to handle large volume mobile objects data, and high interactivity between the computer and users of GVis and KDD tools. This dissertation proposes a visualization toolkit to enable highly interactive visual data exploration for mobile objects datasets. Vector algebraic representation and online analytical processing (OLAP) are utilized for managing and querying the mobile object data to accomplish high interactivity of the visualization tool. In addition, reconstructing trajectories at user-defined levels of temporal granularity with time aggregation methods allows exploration of the individual objects at different levels of movement generality. At a given level of generality, individual paths can be combined into synthetic summary paths based on three similarity measures, namely, locational similarity, directional similarity, and geometric similarity functions. A visualization toolkit based on the space-time cube concept exploits these functionalities to create a user-interactive environment for exploring mobile objects data. Furthermore, the characteristics of visualized trajectories are exported to be utilized for data

Interactive visual supports for children with autism

OpenAIRE

Hayes, Gillian R.; Hirano, Sen; Marcu, Gabriela; Monibi, Mohamad; Nguyen, David H.; Yeganyan, Michael

2010-01-01

Interventions to support children with autism often include the use of visual supports, which are cognitive tools to enable learning and the production of language. Although visual supports are effective in helping to diminish many of the challenges of autism, they are difficult and time-consuming to create, distribute, and use. In this paper, we present the results of a qualitative study focused on uncovering design guidelines for interactive visual supports that would address the many chall...

Genome-wide association data classification and SNPs selection using two-stage quality-based Random Forests.

Science.gov (United States)

Nguyen, Thanh-Tung; Huang, Joshua; Wu, Qingyao; Nguyen, Thuy; Li, Mark

2015-01-01

Single-nucleotide polymorphisms (SNPs) selection and identification are the most important tasks in Genome-wide association data analysis. The problem is difficult because genome-wide association data is very high dimensional and a large portion of SNPs in the data is irrelevant to the disease. Advanced machine learning methods have been successfully used in Genome-wide association studies (GWAS) for identification of genetic variants that have relatively big effects in some common, complex diseases. Among them, the most successful one is Random Forests (RF). Despite of performing well in terms of prediction accuracy in some data sets with moderate size, RF still suffers from working in GWAS for selecting informative SNPs and building accurate prediction models. In this paper, we propose to use a new two-stage quality-based sampling method in random forests, named ts-RF, for SNP subspace selection for GWAS. The method first applies p-value assessment to find a cut-off point that separates informative and irrelevant SNPs in two groups. The informative SNPs group is further divided into two sub-groups: highly informative and weak informative SNPs. When sampling the SNP subspace for building trees for the forest, only those SNPs from the two sub-groups are taken into account. The feature subspaces always contain highly informative SNPs when used to split a node at a tree. This approach enables one to generate more accurate trees with a lower prediction error, meanwhile possibly avoiding overfitting. It allows one to detect interactions of multiple SNPs with the diseases, and to reduce the dimensionality and the amount of Genome-wide association data needed for learning the RF model. Extensive experiments on two genome-wide SNP data sets (Parkinson case-control data comprised of 408,803 SNPs and Alzheimer case-control data comprised of 380,157 SNPs) and 10 gene data sets have demonstrated that the proposed model significantly reduced prediction errors and outperformed

Reviewing and visualizing the interactions of natural hazards

Science.gov (United States)

Gill, Joel C.; Malamud, Bruce D.

2014-12-01

This paper presents a broad overview, characterization, and visualization of the interaction relationships between 21 natural hazards, drawn from six hazard groups (geophysical, hydrological, shallow Earth, atmospheric, biophysical, and space hazards). A synthesis is presented of the identified interaction relationships between these hazards, using an accessible visual format particularly suited to end users. Interactions considered are primarily those where a primary hazard triggers or increases the probability of secondary hazards occurring. In this paper we do the following: (i) identify, through a wide-ranging review of grey- and peer-review literature, 90 interactions; (ii) subdivide the interactions into three levels, based on how well we can characterize secondary hazards, given information about the primary hazard; (iii) determine the spatial overlap and temporal likelihood of the triggering relationships occurring; and (iv) examine the relationship between primary and secondary hazard intensities for each identified hazard interaction and group these into five possible categories. In this study we have synthesized, using accessible visualization techniques, large amounts of information drawn from many scientific disciplines. We outline the importance of constraining hazard interactions and reinforce the importance of a holistic (or multihazard) approach to natural hazard assessment. This approach allows those undertaking research into single hazards to place their work within the context of other hazards. It also communicates important aspects of hazard interactions, facilitating an effective analysis by those working on reducing and managing disaster risk within both the policy and practitioner communities.

Interactive visual steering--rapid visual prototyping of a common rail injection system.

Science.gov (United States)

Matković, Kresimir; Gracanin, Denis; Jelović, Mario; Hauser, Helwig

2008-01-01

Interactive steering with visualization has been a common goal of the visualization research community for twenty years, but it is rarely ever realized in practice. In this paper we describe a successful realization of a tightly coupled steering loop, integrating new simulation technology and interactive visual analysis in a prototyping environment for automotive industry system design. Due to increasing pressure on car manufacturers to meet new emission regulations, to improve efficiency, and to reduce noise, both simulation and visualization are pushed to their limits. Automotive system components, such as the powertrain system or the injection system have an increasing number of parameters, and new design approaches are required. It is no longer possible to optimize such a system solely based on experience or forward optimization. By coupling interactive visualization with the simulation back-end (computational steering), it is now possible to quickly prototype a new system, starting from a non-optimized initial prototype and the corresponding simulation model. The prototyping continues through the refinement of the simulation model, of the simulation parameters and through trial-and-error attempts to an optimized solution. The ability to early see the first results from a multidimensional simulation space--thousands of simulations are run for a multidimensional variety of input parameters--and to quickly go back into the simulation and request more runs in particular parameter regions of interest significantly improves the prototyping process and provides a deeper understanding of the system behavior. The excellent results which we achieved for the common rail injection system strongly suggest that our approach has a great potential of being generalized to other, similar scenarios.

Declarative language design for interactive visualization.

Science.gov (United States)

Heer, Jeffrey; Bostock, Michael

2010-01-01

We investigate the design of declarative, domain-specific languages for constructing interactive visualizations. By separating specification from execution, declarative languages can simplify development, enable unobtrusive optimization, and support retargeting across platforms. We describe the design of the Protovis specification language and its implementation within an object-oriented, statically-typed programming language (Java). We demonstrate how to support rich visualizations without requiring a toolkit-specific data model and extend Protovis to enable declarative specification of animated transitions. To support cross-platform deployment, we introduce rendering and event-handling infrastructures decoupled from the runtime platform, letting designers retarget visualization specifications (e.g., from desktop to mobile phone) with reduced effort. We also explore optimizations such as runtime compilation of visualization specifications, parallelized execution, and hardware-accelerated rendering. We present benchmark studies measuring the performance gains provided by these optimizations and compare performance to existing Java-based visualization tools, demonstrating scalability improvements exceeding an order of magnitude.

Interactive visualization of APT data at full fidelity

International Nuclear Information System (INIS)

Bryden, Aaron; Broderick, Scott; Suram, Santosh K.; Kaluskar, Kaustubh; LeSar, Richard; Rajan, Krishna

2013-01-01

Understanding the impact of noise and incomplete data is a critical need for using atom probe tomography effectively. Although many tools and techniques have been developed to address this problem, visualization of the raw data remains an important part of this process. In this paper, we present two contributions to the visualization of data acquired through atom probe tomography. First, we describe the application of a rendering technique, ray-cast spherical impostors, that enables the interactive rendering of large numbers (as large as 10 million plus) of pixel perfect, lit spheres representing individual atoms. This technique is made possible by the use of a consumer-level graphics processing unit (GPU), and it yields an order of magnitude improvement both in render quality and speed over techniques previously used to render spherical glyphs in this domain. Second, we present an interactive tool that allows the user to mask, filter, and colorize the data in real time to help them understand and visualize a precise subset and properties of the raw data. We demonstrate the effectiveness of our tool through benchmarks and an example that shows how the ability to interactively render large numbers of spheres, combined with the use of filters and masks, leads to improved understanding of the three-dimensional (3D) and incomplete nature of atom probe data. This improvement arises from the ability of lit spheres to more effectively show the 3D position and the local spatial distribution of individual atoms than what is possible with point or isosurface renderings. The techniques described in this paper serve to introduce new rendering and interaction techniques that have only recently become practical as well as new ways of interactively exploring the raw data. - Highlights: ► Application of spherical impostor rendering to atom probe data visualization. ► Presented an interactive tool for visualizing atom probe tomography data. ► Presented a comparison of

LD2SNPing: linkage disequilibrium plotter and RFLP enzyme mining for tag SNPs

Directory of Open Access Journals (Sweden)

Cheng Yu-Huei

2009-06-01

Full Text Available Abstract Background Linkage disequilibrium (LD mapping is commonly used to evaluate markers for genome-wide association studies. Most types of LD software focus strictly on LD analysis and visualization, but lack supporting services for genotyping. Results We developed a freeware called LD2SNPing, which provides a complete package of mining tools for genotyping and LD analysis environments. The software provides SNP ID- and gene-centric online retrievals for SNP information and tag SNP selection from dbSNP/NCBI and HapMap, respectively. Restriction fragment length polymorphism (RFLP enzyme information for SNP genotype is available to all SNP IDs and tag SNPs. Single and multiple SNP inputs are possible in order to perform LD analysis by online retrieval from HapMap and NCBI. An LD statistics section provides D, D', r2, δQ, ρ, and the P values of the Hardy-Weinberg Equilibrium for each SNP marker, and Chi-square and likelihood-ratio tests for the pair-wise association of two SNPs in LD calculation. Finally, 2D and 3D plots, as well as plain-text output of the results, can be selected. Conclusion LD2SNPing thus provides a novel visualization environment for multiple SNP input, which facilitates SNP association studies. The software, user manual, and tutorial are freely available at http://bio.kuas.edu.tw/LD2NPing.

A SNP Harvester Analysis to Better Detect SNPs of CCDC158 Gene That Are Associated with Carcass Quality Traits in Hanwoo

Directory of Open Access Journals (Sweden)

Jea-Young Lee

2013-06-01

Full Text Available The purpose of this study was to investigate interaction effects of genes using a Harvester method. A sample of Korean cattle, Hanwoo (n = 476 was chosen from the National Livestock Research Institute of Korea that were sired by 50 Korean proven bulls. The steers were born between the spring of 1998 and the autumn of 2002 and reared under a progeny-testing program at the Daekwanryeong and Namwon branches of NLRI. The steers were slaughtered at approximately 24 months of age and carcass quality traits were measured. A SNP Harvester method was applied with a support vector machine (SVM to detect significant SNPs in the CCDC158 gene and interaction effects between the SNPs that were associated with average daily gains, cold carcass weight, longissimus dorsi muscle area, and marbling scores. The statistical significance of the major SNP combinations was evaluated with x2-statistics. The genotype combinations of three SNPs, g.34425+102 A>T(AA, g.4102636T>G(GT, and g.11614+19G>T(GG had a greater effect than the rest of SNP combinations, e.g. 0.82 vs. 0.75 kg, 343 vs. 314 kg, 80.4 vs 74.7 cm2, and 7.35 vs. 5.01, for the four respective traits (p<0.001. Also, the estimates were greater compared with single SNPs analyzed (the greatest estimates were 0.76 kg, 320 kg, 75.5 cm2, and 5.31, respectively. This result suggests that the SNP Harvester method is a good option when multiple SNPs and interaction effects are tested. The significant SNPs could be applied to improve meat quality of Hanwoo via marker-assisted selection.

In silico analysis of consequences of non-synonymous SNPs of Slc11a2 gene in Indian bovines

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Shreya M. Patel

2015-09-01

Full Text Available The aim of our study was to analyze the consequences of non-synonymous SNPs in Slc11a2 gene using bioinformatic tools. There is a current need of efficient bioinformatic tools for in-depth analysis of data generated by the next generation sequencing technologies. SNPs are known to play an imperative role in understanding the genetic basis of many genetic diseases. Slc11a2 is one of the major metal transporter families in mammals and plays a critical role in host defenses. In this study, we performed a comprehensive analysis of the impact of all non-synonymous SNPs in this gene using multiple tools like SIFT, PROVEAN, I-Mutant and PANTHER. Among the total 124 SNPs obtained from amplicon sequencing of Slc11a2 gene by Ion Torrent PGM involving 10 individuals of Gir cattle and Murrah buffalo each, we found 22 non-synonymous. Comparing the prediction of these 4 methods, 5 nsSNPs (G369R, Y374C, A377V, Q385H and N492S were identified as deleterious. In addition, while tested out for polar interactions with other amino acids in the protein, from above 5, Y374C, Q385H and N492S showed a change in interaction pattern and further confirmed by an increase in total energy after energy minimizations in case of mutant protein compared to the native.

Style grammars for interactive visualization of architecture.

Science.gov (United States)

Aliaga, Daniel G; Rosen, Paul A; Bekins, Daniel R

2007-01-01

Interactive visualization of architecture provides a way to quickly visualize existing or novel buildings and structures. Such applications require both fast rendering and an effortless input regimen for creating and changing architecture using high-level editing operations that automatically fill in the necessary details. Procedural modeling and synthesis is a powerful paradigm that yields high data amplification and can be coupled with fast-rendering techniques to quickly generate plausible details of a scene without much or any user interaction. Previously, forward generating procedural methods have been proposed where a procedure is explicitly created to generate particular content. In this paper, we present our work in inverse procedural modeling of buildings and describe how to use an extracted repertoire of building grammars to facilitate the visualization and quick modification of architectural structures and buildings. We demonstrate an interactive application where the user draws simple building blocks and, using our system, can automatically complete the building "in the style of" other buildings using view-dependent texture mapping or nonphotorealistic rendering techniques. Our system supports an arbitrary number of building grammars created from user subdivided building models and captured photographs. Using only edit, copy, and paste metaphors, the entire building styles can be altered and transferred from one building to another in a few operations, enhancing the ability to modify an existing architectural structure or to visualize a novel building in the style of the others.

iview: an interactive WebGL visualizer for protein-ligand complex.

Science.gov (United States)

Li, Hongjian; Leung, Kwong-Sak; Nakane, Takanori; Wong, Man-Hon

2014-02-25

Visualization of protein-ligand complex plays an important role in elaborating protein-ligand interactions and aiding novel drug design. Most existing web visualizers either rely on slow software rendering, or lack virtual reality support. The vital feature of macromolecular surface construction is also unavailable. We have developed iview, an easy-to-use interactive WebGL visualizer of protein-ligand complex. It exploits hardware acceleration rather than software rendering. It features three special effects in virtual reality settings, namely anaglyph, parallax barrier and oculus rift, resulting in visually appealing identification of intermolecular interactions. It supports four surface representations including Van der Waals surface, solvent excluded surface, solvent accessible surface and molecular surface. Moreover, based on the feature-rich version of iview, we have also developed a neat and tailor-made version specifically for our istar web platform for protein-ligand docking purpose. This demonstrates the excellent portability of iview. Using innovative 3D techniques, we provide a user friendly visualizer that is not intended to compete with professional visualizers, but to enable easy accessibility and platform independence.

Exclusively visual analysis of classroom group interactions

Science.gov (United States)

Tucker, Laura; Scherr, Rachel E.; Zickler, Todd; Mazur, Eric

2016-12-01

Large-scale audiovisual data that measure group learning are time consuming to collect and analyze. As an initial step towards scaling qualitative classroom observation, we qualitatively coded classroom video using an established coding scheme with and without its audio cues. We find that interrater reliability is as high when using visual data only—without audio—as when using both visual and audio data to code. Also, interrater reliability is high when comparing use of visual and audio data to visual-only data. We see a small bias to code interactions as group discussion when visual and audio data are used compared with video-only data. This work establishes that meaningful educational observation can be made through visual information alone. Further, it suggests that after initial work to create a coding scheme and validate it in each environment, computer-automated visual coding could drastically increase the breadth of qualitative studies and allow for meaningful educational analysis on a far greater scale.

Exclusively visual analysis of classroom group interactions

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Laura Tucker

2016-11-01

Full Text Available Large-scale audiovisual data that measure group learning are time consuming to collect and analyze. As an initial step towards scaling qualitative classroom observation, we qualitatively coded classroom video using an established coding scheme with and without its audio cues. We find that interrater reliability is as high when using visual data only—without audio—as when using both visual and audio data to code. Also, interrater reliability is high when comparing use of visual and audio data to visual-only data. We see a small bias to code interactions as group discussion when visual and audio data are used compared with video-only data. This work establishes that meaningful educational observation can be made through visual information alone. Further, it suggests that after initial work to create a coding scheme and validate it in each environment, computer-automated visual coding could drastically increase the breadth of qualitative studies and allow for meaningful educational analysis on a far greater scale.

Investigation of SNPs in the porcine desmoglein 1 gene

DEFF Research Database (Denmark)

Daugaard, L.; Andresen, Lars Ole; Fredholm, M.

2007-01-01

epidermitis were diagnosed clinically as affected or unaffected. Two regions of the desmoglein I gene were sequenced and genotypes of the SNPs were established. Seven SNPs (823T>C, 828A>G, 829A>G, 830A>T, 831A>T, 838A>C and 1139C>T) were found in the analysed sequences and the allele frequencies were...... the location of single nucleotide polymorphisms (SNPs) in the porcine desmoglein I gene (PIG)DSGI in correlation to the cleavage site as well as if the genotype of the SNPs is correlated to susceptibility or resistance to the disease. Results: DNA from 32 affected and 32 unaffected piglets with exudative...... the genotypes of two out of seven SNPs found in the porcine desmoglein I gene and the susceptibility to exudative epidermitis....

In silico analysis of SNPs of SYK gene Involved in Oral Cancer

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Sarita Swain

2017-12-01

Full Text Available Oral cancer is the sixth most common cancer in the world. Oral cancer is the cancer of the oral cavity and pharynx, including cancer of the lip, tongue, salivary glands, gum, floor and other areas of the mouth. The aim of the study is to identify SNPs using dbSNP and predict the effect of mutation using Predict SNP. The association of genes is done by STRING. The disease and drugs associated with the genes are obtained from Webgestalt. The prediction of binding site is done by CASTp. The interaction of ligand and protein is done by using Autodock and Visualised through Discovery studio, pymol, Ligplot. From this report we found that oral cancer differs from person to person based on their genes and genetic interactions and expressions which recommend the clinicians to go for personalized medicine rather that generalized medicine for the patients with oral cancer. Seeking the importance of genetic background of oral cancer patients further studies can be done by mining of non-synonymous SNPs associated with genes for causing oral cancer.

Visual and proprioceptive interaction in patients with bilateral vestibular loss.

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Cutfield, Nicholas J; Scott, Gregory; Waldman, Adam D; Sharp, David J; Bronstein, Adolfo M

2014-01-01

Following bilateral vestibular loss (BVL) patients gradually adapt to the loss of vestibular input and rely more on other sensory inputs. Here we examine changes in the way proprioceptive and visual inputs interact. We used functional magnetic resonance imaging (fMRI) to investigate visual responses in the context of varying levels of proprioceptive input in 12 BVL subjects and 15 normal controls. A novel metal-free vibrator was developed to allow vibrotactile neck proprioceptive input to be delivered in the MRI system. A high level (100 Hz) and low level (30 Hz) control stimulus was applied over the left splenius capitis; only the high frequency stimulus generates a significant proprioceptive stimulus. The neck stimulus was applied in combination with static and moving (optokinetic) visual stimuli, in a factorial fMRI experimental design. We found that high level neck proprioceptive input had more cortical effect on brain activity in the BVL patients. This included a reduction in visual motion responses during high levels of proprioceptive input and differential activation in the midline cerebellum. In early visual cortical areas, the effect of high proprioceptive input was present for both visual conditions but in lateral visual areas, including V5/MT, the effect was only seen in the context of visual motion stimulation. The finding of a cortical visuo-proprioceptive interaction in BVL patients is consistent with behavioural data indicating that, in BVL patients, neck afferents partly replace vestibular input during the CNS-mediated compensatory process. An fMRI cervico-visual interaction may thus substitute the known visuo-vestibular interaction reported in normal subject fMRI studies. The results provide evidence for a cortical mechanism of adaptation to vestibular failure, in the form of an enhanced proprioceptive influence on visual processing. The results may provide the basis for a cortical mechanism involved in proprioceptive substitution of vestibular

Discourse with Visual Health Data: Design of Human-Data Interaction

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Oluwakemi Ola

2018-03-01

Full Text Available Previous work has suggested that large repositories of data can revolutionize healthcare activities; however, there remains a disconnection between data collection and its effective usage. The way in which users interact with data strongly impacts their ability to not only complete tasks but also capitalize on the purported benefits of such data. Interactive visualizations can provide a means by which many data-driven tasks can be performed. Recent surveys, however, suggest that many visualizations mostly enable users to perform simple manipulations, thus limiting their ability to complete tasks. Researchers have called for tools that allow for richer discourse with data. Nonetheless, systematic design of human-data interaction for visualization tools is a non-trivial task. It requires taking into consideration a myriad of issues. Creation of visualization tools that incorporate rich human-data discourse would benefit from the use of design frameworks. In this paper, we examine and present a design process that is based on a conceptual human-data interaction framework. We discuss and describe the design of interaction for a visualization tool intended for sensemaking of public health data. We demonstrate the utility of systematic interaction design in two ways. First, we use scenarios to highlight how our design approach supports a rich and meaningful discourse with data. Second, we present results from a study that details how users were able to perform various tasks with health data and learn about global health trends.

Interactive metagenomic visualization in a Web browser

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Phillippy Adam M

2011-09-01

Full Text Available Abstract Background A critical output of metagenomic studies is the estimation of abundances of taxonomical or functional groups. The inherent uncertainty in assignments to these groups makes it important to consider both their hierarchical contexts and their prediction confidence. The current tools for visualizing metagenomic data, however, omit or distort quantitative hierarchical relationships and lack the facility for displaying secondary variables. Results Here we present Krona, a new visualization tool that allows intuitive exploration of relative abundances and confidences within the complex hierarchies of metagenomic classifications. Krona combines a variant of radial, space-filling displays with parametric coloring and interactive polar-coordinate zooming. The HTML5 and JavaScript implementation enables fully interactive charts that can be explored with any modern Web browser, without the need for installed software or plug-ins. This Web-based architecture also allows each chart to be an independent document, making them easy to share via e-mail or post to a standard Web server. To illustrate Krona's utility, we describe its application to various metagenomic data sets and its compatibility with popular metagenomic analysis tools. Conclusions Krona is both a powerful metagenomic visualization tool and a demonstration of the potential of HTML5 for highly accessible bioinformatic visualizations. Its rich and interactive displays facilitate more informed interpretations of metagenomic analyses, while its implementation as a browser-based application makes it extremely portable and easily adopted into existing analysis packages. Both the Krona rendering code and conversion tools are freely available under a BSD open-source license, and available from: http://krona.sourceforge.net.

A periodic pattern of SNPs in the human genome

DEFF Research Database (Denmark)

Madsen, Bo Eskerod; Villesen, Palle; Wiuf, Carsten

2007-01-01

By surveying a filtered, high-quality set of SNPs in the human genome, we have found that SNPs positioned 1, 2, 4, 6, or 8 bp apart are more frequent than SNPs positioned 3, 5, 7, or 9 bp apart. The observed pattern is not restricted to genomic regions that are known to cause sequencing...... periodic DNA. Our results suggest that not all SNPs in the human genome are created by independent single nucleotide mutations, and that care should be taken in analysis of SNPs from periodic DNA. The latter may have important consequences for SNP and association studies....... or alignment errors, for example, transposable elements (SINE, LINE, and LTR), tandem repeats, and large duplicated regions. However, we found that the pattern is almost entirely confined to what we define as "periodic DNA." Periodic DNA is a genomic region with a high degree of periodicity in nucleotide usage...

Vizic: A Jupyter-based interactive visualization tool for astronomical catalogs

Science.gov (United States)

Yu, W.; Carrasco Kind, M.; Brunner, R. J.

2017-07-01

The ever-growing datasets in observational astronomy have challenged scientists in many aspects, including an efficient and interactive data exploration and visualization. Many tools have been developed to confront this challenge. However, they usually focus on displaying the actual images or focus on visualizing patterns within catalogs in a predefined way. In this paper we introduce Vizic, a Python visualization library that builds the connection between images and catalogs through an interactive map of the sky region. Vizic visualizes catalog data over a custom background canvas using the shape, size and orientation of each object in the catalog. The displayed objects in the map are highly interactive and customizable comparing to those in the observation images. These objects can be filtered by or colored by their property values, such as redshift and magnitude. They also can be sub-selected using a lasso-like tool for further analysis using standard Python functions and everything is done from inside a Jupyter notebook. Furthermore, Vizic allows custom overlays to be appended dynamically on top of the sky map. We have initially implemented several overlays, namely, Voronoi, Delaunay, Minimum Spanning Tree and HEALPix grid layer, which are helpful for visualizing large-scale structure. All these overlays can be generated, added or removed interactively with just one line of code. The catalog data is stored in a non-relational database, and the interfaces have been developed in JavaScript and Python to work within Jupyter Notebook, which allows to create customizable widgets, user generated scripts to analyze and plot the data selected/displayed in the interactive map. This unique design makes Vizic a very powerful and flexible interactive analysis tool. Vizic can be adopted in variety of exercises, for example, data inspection, clustering analysis, galaxy alignment studies, outlier identification or just large scale visualizations.

In Vitro vs In Silico Detected SNPs for the Development of a Genotyping Array: What Can We Learn from a Non-Model Species?

Science.gov (United States)

Lepoittevin, Camille; Frigerio, Jean-Marc; Garnier-Géré, Pauline; Salin, Franck; Cervera, María-Teresa; Vornam, Barbara; Harvengt, Luc; Plomion, Christophe

2010-01-01

Background There is considerable interest in the high-throughput discovery and genotyping of single nucleotide polymorphisms (SNPs) to accelerate genetic mapping and enable association studies. This study provides an assessment of EST-derived and resequencing-derived SNP quality in maritime pine (Pinus pinaster Ait.), a conifer characterized by a huge genome size (∼23.8 Gb/C). Methodology/Principal Findings A 384-SNPs GoldenGate genotyping array was built from i/ 184 SNPs originally detected in a set of 40 re-sequenced candidate genes (in vitro SNPs), chosen on the basis of functionality scores, presence of neighboring polymorphisms, minor allele frequencies and linkage disequilibrium and ii/ 200 SNPs screened from ESTs (in silico SNPs) selected based on the number of ESTs used for SNP detection, the SNP minor allele frequency and the quality of SNP flanking sequences. The global success rate of the assay was 66.9%, and a conversion rate (considering only polymorphic SNPs) of 51% was achieved. In vitro SNPs showed significantly higher genotyping-success and conversion rates than in silico SNPs (+11.5% and +18.5%, respectively). The reproducibility was 100%, and the genotyping error rate very low (0.54%, dropping down to 0.06% when removing four SNPs showing elevated error rates). Conclusions/Significance This study demonstrates that ESTs provide a resource for SNP identification in non-model species, which do not require any additional bench work and little bio-informatics analysis. However, the time and cost benefits of in silico SNPs are counterbalanced by a lower conversion rate than in vitro SNPs. This drawback is acceptable for population-based experiments, but could be dramatic in experiments involving samples from narrow genetic backgrounds. In addition, we showed that both the visual inspection of genotyping clusters and the estimation of a per SNP error rate should help identify markers that are not suitable to the GoldenGate technology in species

In vitro vs in silico detected SNPs for the development of a genotyping array: what can we learn from a non-model species?

Directory of Open Access Journals (Sweden)

Camille Lepoittevin

2010-06-01

Full Text Available There is considerable interest in the high-throughput discovery and genotyping of single nucleotide polymorphisms (SNPs to accelerate genetic mapping and enable association studies. This study provides an assessment of EST-derived and resequencing-derived SNP quality in maritime pine (Pinus pinaster Ait., a conifer characterized by a huge genome size ( approximately 23.8 Gb/C.A 384-SNPs GoldenGate genotyping array was built from i/ 184 SNPs originally detected in a set of 40 re-sequenced candidate genes (in vitro SNPs, chosen on the basis of functionality scores, presence of neighboring polymorphisms, minor allele frequencies and linkage disequilibrium and ii/ 200 SNPs screened from ESTs (in silico SNPs selected based on the number of ESTs used for SNP detection, the SNP minor allele frequency and the quality of SNP flanking sequences. The global success rate of the assay was 66.9%, and a conversion rate (considering only polymorphic SNPs of 51% was achieved. In vitro SNPs showed significantly higher genotyping-success and conversion rates than in silico SNPs (+11.5% and +18.5%, respectively. The reproducibility was 100%, and the genotyping error rate very low (0.54%, dropping down to 0.06% when removing four SNPs showing elevated error rates.This study demonstrates that ESTs provide a resource for SNP identification in non-model species, which do not require any additional bench work and little bio-informatics analysis. However, the time and cost benefits of in silico SNPs are counterbalanced by a lower conversion rate than in vitro SNPs. This drawback is acceptable for population-based experiments, but could be dramatic in experiments involving samples from narrow genetic backgrounds. In addition, we showed that both the visual inspection of genotyping clusters and the estimation of a per SNP error rate should help identify markers that are not suitable to the GoldenGate technology in species characterized by a large and complex genome.

A Visual Formalism for Interacting Systems

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Paul C. Jorgensen

2015-04-01

Full Text Available Interacting systems are increasingly common. Many examples pervade our everyday lives: automobiles, aircraft, defense systems, telephone switching systems, financial systems, national governments, and so on. Closer to computer science, embedded systems and Systems of Systems are further examples of interacting systems. Common to all of these is that some "whole" is made up of constituent parts, and these parts interact with each other. By design, these interactions are intentional, but it is the unintended interactions that are problematic. The Systems of Systems literature uses the terms "constituent systems" and "constituents" to refer to systems that interact with each other. That practice is followed here. This paper presents a visual formalism, Swim Lane Event-Driven Petri Nets, that is proposed as a basis for Model-Based Testing (MBT of interacting systems. In the absence of available tools, this model can only support the offline form of Model-Based Testing.

Analysis of Case-Control Association Studies: SNPs, Imputation and Haplotypes

KAUST Repository

Chatterjee, Nilanjan; Chen, Yi-Hau; Luo, Sheng; Carroll, Raymond J.

2009-01-01

Although prospective logistic regression is the standard method of analysis for case-control data, it has been recently noted that in genetic epidemiologic studies one can use the "retrospective" likelihood to gain major power by incorporating various population genetics model assumptions such as Hardy-Weinberg-Equilibrium (HWE), gene-gene and gene-environment independence. In this article we review these modern methods and contrast them with the more classical approaches through two types of applications (i) association tests for typed and untyped single nucleotide polymorphisms (SNPs) and (ii) estimation of haplotype effects and haplotype-environment interactions in the presence of haplotype-phase ambiguity. We provide novel insights to existing methods by construction of various score-tests and pseudo-likelihoods. In addition, we describe a novel two-stage method for analysis of untyped SNPs that can use any flexible external algorithm for genotype imputation followed by a powerful association test based on the retrospective likelihood. We illustrate applications of the methods using simulated and real data. © Institute of Mathematical Statistics, 2009.

Analysis of Case-Control Association Studies: SNPs, Imputation and Haplotypes

KAUST Repository

Chatterjee, Nilanjan

2009-11-01

Although prospective logistic regression is the standard method of analysis for case-control data, it has been recently noted that in genetic epidemiologic studies one can use the "retrospective" likelihood to gain major power by incorporating various population genetics model assumptions such as Hardy-Weinberg-Equilibrium (HWE), gene-gene and gene-environment independence. In this article we review these modern methods and contrast them with the more classical approaches through two types of applications (i) association tests for typed and untyped single nucleotide polymorphisms (SNPs) and (ii) estimation of haplotype effects and haplotype-environment interactions in the presence of haplotype-phase ambiguity. We provide novel insights to existing methods by construction of various score-tests and pseudo-likelihoods. In addition, we describe a novel two-stage method for analysis of untyped SNPs that can use any flexible external algorithm for genotype imputation followed by a powerful association test based on the retrospective likelihood. We illustrate applications of the methods using simulated and real data. © Institute of Mathematical Statistics, 2009.

In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene.

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Sayed AbdulAzeez

Full Text Available α-Thalassemia (α-thal is a genetic disorder caused by the substitution of single amino acid or large deletions in the HBA1 and/or HBA2 genes.Using modern bioinformatics tools as a systematic in-silico approach to predict the deleterious SNPs in the HBA1 gene and its significant pathogenic impact on the functions and structure of HBA1 protein was predicted.A total of 389 SNPs in HBA1 were retrieved from dbSNP database, which includes: 201 non-coding synonymous (nsSNPs, 43 human active SNPs, 16 intronic SNPs, 11 mRNA 3' UTR SNPs, 9 coding synonymous SNPs, 9 5' UTR SNPs and other types. Structural homology-based method (PolyPhen and sequence homology-based tool (SIFT, SNPs&Go, PROVEAN and PANTHER revealed that 2.4% of the nsSNPs are pathogenic.A total of 5 nsSNPs (G60V, K17M, K17T, L92F and W15R were predicted to be responsible for the structural and functional modifications of HBA1 protein. It is evident from the deep comprehensive in-silico analysis that, two nsSNPs such as G60V and W15R in HBA1 are highly deleterious. These "2 pathogenic nsSNPs" can be considered for wet-lab confirmatory analysis.

Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints.

Science.gov (United States)

Schwessinger, Ron; Suciu, Maria C; McGowan, Simon J; Telenius, Jelena; Taylor, Stephen; Higgs, Doug R; Hughes, Jim R

2017-10-01

In the era of genome-wide association studies (GWAS) and personalized medicine, predicting the impact of single nucleotide polymorphisms (SNPs) in regulatory elements is an important goal. Current approaches to determine the potential of regulatory SNPs depend on inadequate knowledge of cell-specific DNA binding motifs. Here, we present Sasquatch, a new computational approach that uses DNase footprint data to estimate and visualize the effects of noncoding variants on transcription factor binding. Sasquatch performs a comprehensive k -mer-based analysis of DNase footprints to determine any k -mer's potential for protein binding in a specific cell type and how this may be changed by sequence variants. Therefore, Sasquatch uses an unbiased approach, independent of known transcription factor binding sites and motifs. Sasquatch only requires a single DNase-seq data set per cell type, from any genotype, and produces consistent predictions from data generated by different experimental procedures and at different sequence depths. Here we demonstrate the effectiveness of Sasquatch using previously validated functional SNPs and benchmark its performance against existing approaches. Sasquatch is available as a versatile webtool incorporating publicly available data, including the human ENCODE collection. Thus, Sasquatch provides a powerful tool and repository for prioritizing likely regulatory SNPs in the noncoding genome. © 2017 Schwessinger et al.; Published by Cold Spring Harbor Laboratory Press.

Selective visual attention to emotional words: Early parallel frontal and visual activations followed by interactive effects in visual cortex.

Science.gov (United States)

Schindler, Sebastian; Kissler, Johanna

2016-10-01

Human brains spontaneously differentiate between various emotional and neutral stimuli, including written words whose emotional quality is symbolic. In the electroencephalogram (EEG), emotional-neutral processing differences are typically reflected in the early posterior negativity (EPN, 200-300 ms) and the late positive potential (LPP, 400-700 ms). These components are also enlarged by task-driven visual attention, supporting the assumption that emotional content naturally drives attention. Still, the spatio-temporal dynamics of interactions between emotional stimulus content and task-driven attention remain to be specified. Here, we examine this issue in visual word processing. Participants attended to negative, neutral, or positive nouns while high-density EEG was recorded. Emotional content and top-down attention both amplified the EPN component in parallel. On the LPP, by contrast, emotion and attention interacted: Explicit attention to emotional words led to a substantially larger amplitude increase than did explicit attention to neutral words. Source analysis revealed early parallel effects of emotion and attention in bilateral visual cortex and a later interaction of both in right visual cortex. Distinct effects of attention were found in inferior, middle and superior frontal, paracentral, and parietal areas, as well as in the anterior cingulate cortex (ACC). Results specify separate and shared mechanisms of emotion and attention at distinct processing stages. Hum Brain Mapp 37:3575-3587, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Development of a spreadsheet for SNPs typing using Microsoft EXCEL.

Science.gov (United States)

Hashiyada, Masaki; Itakura, Yukio; Takahashi, Shirushi; Sakai, Jun; Funayama, Masato

2009-04-01

Single-nucleotide polymorphisms (SNPs) have some characteristics that make them very appropriate for forensic studies and applications. In our institute, SNPs typings were performed by the TaqMan SNP Genotyping Assays using the ABI PRISM 7500 FAST Real-Time PCR System (AppliedBiosystems) and Sequence Detection Software ver.1.4 (AppliedBiosystem). The TaqMan method was desired two positive control (Allele1 and 2) and one negative control to analyze each SNP locus. Therefore, it can be analyzed up to 24 loci of a person on a 96-well-plate at the same time. If SNPs analysis is expected to apply to biometrics authentication, 48 and over loci are required to identify a person. In this study, we designed a spreadsheet package using Microsoft EXCEL, and population data were used from our 120 SNPs population studies. On the spreadsheet, we defined SNP types using 'template files' instead of positive and negative controls. "Template files" consisted of the results of 94 unknown samples and two negative controls of each of 120 SNPs loci we had previously studied. By the use of the files, the spreadsheet could analyze 96 SNPs on a 96-wells-plate simultaneously.

Population differentiation in allele frequencies of obesity-associated SNPs.

Science.gov (United States)

Mao, Linyong; Fang, Yayin; Campbell, Michael; Southerland, William M

2017-11-10

Obesity is emerging as a global health problem, with more than one-third of the world's adult population being overweight or obese. In this study, we investigated worldwide population differentiation in allele frequencies of obesity-associated SNPs (single nucleotide polymorphisms). We collected a total of 225 obesity-associated SNPs from a public database. Their population-level allele frequencies were derived based on the genotype data from 1000 Genomes Project (phase 3). We used hypergeometric model to assess whether the effect allele at a given SNP is significantly enriched or depleted in each of the 26 populations surveyed in the 1000 Genomes Project with respect to the overall pooled population. Our results indicate that 195 out of 225 SNPs (86.7%) possess effect alleles significantly enriched or depleted in at least one of the 26 populations. Populations within the same continental group exhibit similar allele enrichment/depletion patterns whereas inter-continental populations show distinct patterns. Among the 225 SNPs, 15 SNPs cluster in the first intron region of the FTO gene, which is a major gene associated with body-mass index (BMI) and fat mass. African populations exhibit much smaller blocks of LD (linkage disequilibrium) among these15 SNPs while European and Asian populations have larger blocks. To estimate the cumulative effect of all variants associated with obesity, we developed the personal composite genetic risk score for obesity. Our results indicate that the East Asian populations have the lowest averages of the composite risk scores, whereas three European populations have the highest averages. In addition, the population-level average of composite genetic risk scores is significantly correlated (R 2 = 0.35, P = 0.0060) with obesity prevalence. We have detected substantial population differentiation in allele frequencies of obesity-associated SNPs. The results will help elucidate the genetic basis which may contribute to population

Maximizing Impact: Pairing interactive web visualizations with traditional print media

Science.gov (United States)

Read, E. K.; Appling, A.; Carr, L.; De Cicco, L.; Read, J. S.; Walker, J. I.; Winslow, L. A.

2016-12-01

Our Nation's rapidly growing store of environmental data makes new demands on researchers: to take on increasingly broad-scale, societally relevant analyses and to rapidly communicate findings to the public. Interactive web-based data visualizations now commonly supplement or comprise journalism, and science journalism has followed suit. To maximize the impact of US Geological Survey (USGS) science, the USGS Office of Water Information Data Science team builds tools and products that combine traditional static research products (e.g., print journal articles) with web-based, interactive data visualizations that target non-scientific audiences. We developed a lightweight, open-source framework for web visualizations to reduce time to production. The framework provides templates for a data visualization workflow and the packaging of text, interactive figures, and images into an appealing web interface with standardized look and feel, usage tracking, and responsiveness. By partnering with subject matter experts to focus on timely, societally relevant issues, we use these tools to produce appealing visual stories targeting specific audiences, including managers, the general public, and scientists, on diverse topics including drought, microplastic pollution, and fisheries response to climate change. We will describe the collaborative and technical methodologies used; describe some examples of how it's worked; and challenges and opportunities for the future.

A Scalable Cyberinfrastructure for Interactive Visualization of Terascale Microscopy Data.

Science.gov (United States)

Venkat, A; Christensen, C; Gyulassy, A; Summa, B; Federer, F; Angelucci, A; Pascucci, V

2016-08-01

The goal of the recently emerged field of connectomics is to generate a wiring diagram of the brain at different scales. To identify brain circuitry, neuroscientists use specialized microscopes to perform multichannel imaging of labeled neurons at a very high resolution. CLARITY tissue clearing allows imaging labeled circuits through entire tissue blocks, without the need for tissue sectioning and section-to-section alignment. Imaging the large and complex non-human primate brain with sufficient resolution to identify and disambiguate between axons, in particular, produces massive data, creating great computational challenges to the study of neural circuits. Researchers require novel software capabilities for compiling, stitching, and visualizing large imagery. In this work, we detail the image acquisition process and a hierarchical streaming platform, ViSUS, that enables interactive visualization of these massive multi-volume datasets using a standard desktop computer. The ViSUS visualization framework has previously been shown to be suitable for 3D combustion simulation, climate simulation and visualization of large scale panoramic images. The platform is organized around a hierarchical cache oblivious data layout, called the IDX file format, which enables interactive visualization and exploration in ViSUS, scaling to the largest 3D images. In this paper we showcase the VISUS framework used in an interactive setting with the microscopy data.

Haptic and Audio-visual Stimuli: Enhancing Experiences and Interaction

NARCIS (Netherlands)

Nijholt, Antinus; Dijk, Esko O.; Lemmens, Paul M.C.; Luitjens, S.B.

2010-01-01

The intention of the symposium on Haptic and Audio-visual stimuli at the EuroHaptics 2010 conference is to deepen the understanding of the effect of combined Haptic and Audio-visual stimuli. The knowledge gained will be used to enhance experiences and interactions in daily life. To this end, a

OpinionSeer: interactive visualization of hotel customer feedback.

Science.gov (United States)

Wu, Yingcai; Wei, Furu; Liu, Shixia; Au, Norman; Cui, Weiwei; Zhou, Hong; Qu, Huamin

2010-01-01

The rapid development of Web technology has resulted in an increasing number of hotel customers sharing their opinions on the hotel services. Effective visual analysis of online customer opinions is needed, as it has a significant impact on building a successful business. In this paper, we present OpinionSeer, an interactive visualization system that could visually analyze a large collection of online hotel customer reviews. The system is built on a new visualization-centric opinion mining technique that considers uncertainty for faithfully modeling and analyzing customer opinions. A new visual representation is developed to convey customer opinions by augmenting well-established scatterplots and radial visualization. To provide multiple-level exploration, we introduce subjective logic to handle and organize subjective opinions with degrees of uncertainty. Several case studies illustrate the effectiveness and usefulness of OpinionSeer on analyzing relationships among multiple data dimensions and comparing opinions of different groups. Aside from data on hotel customer feedback, OpinionSeer could also be applied to visually analyze customer opinions on other products or services.

An interactive, stereoscopic virtual environment for medical imaging visualization, simulation and training

Science.gov (United States)

Krueger, Evan; Messier, Erik; Linte, Cristian A.; Diaz, Gabriel

2017-03-01

Recent advances in medical image acquisition allow for the reconstruction of anatomies with 3D, 4D, and 5D renderings. Nevertheless, standard anatomical and medical data visualization still relies heavily on the use of traditional 2D didactic tools (i.e., textbooks and slides), which restrict the presentation of image data to a 2D slice format. While these approaches have their merits beyond being cost effective and easy to disseminate, anatomy is inherently three-dimensional. By using 2D visualizations to illustrate more complex morphologies, important interactions between structures can be missed. In practice, such as in the planning and execution of surgical interventions, professionals require intricate knowledge of anatomical complexities, which can be more clearly communicated and understood through intuitive interaction with 3D volumetric datasets, such as those extracted from high-resolution CT or MRI scans. Open source, high quality, 3D medical imaging datasets are freely available, and with the emerging popularity of 3D display technologies, affordable and consistent 3D anatomical visualizations can be created. In this study we describe the design, implementation, and evaluation of one such interactive, stereoscopic visualization paradigm for human anatomy extracted from 3D medical images. A stereoscopic display was created by projecting the scene onto the lab floor using sequential frame stereo projection and viewed through active shutter glasses. By incorporating a PhaseSpace motion tracking system, a single viewer can navigate an augmented reality environment and directly manipulate virtual objects in 3D. While this paradigm is sufficiently versatile to enable a wide variety of applications in need of 3D visualization, we designed our study to work as an interactive game, which allows users to explore the anatomy of various organs and systems. In this study we describe the design, implementation, and evaluation of an interactive and stereoscopic

Interactive 3D Mars Visualization

Science.gov (United States)

Powell, Mark W.

2012-01-01

The Interactive 3D Mars Visualization system provides high-performance, immersive visualization of satellite and surface vehicle imagery of Mars. The software can be used in mission operations to provide the most accurate position information for the Mars rovers to date. When integrated into the mission data pipeline, this system allows mission planners to view the location of the rover on Mars to 0.01-meter accuracy with respect to satellite imagery, with dynamic updates to incorporate the latest position information. Given this information so early in the planning process, rover drivers are able to plan more accurate drive activities for the rover than ever before, increasing the execution of science activities significantly. Scientifically, this 3D mapping information puts all of the science analyses to date into geologic context on a daily basis instead of weeks or months, as was the norm prior to this contribution. This allows the science planners to judge the efficacy of their previously executed science observations much more efficiently, and achieve greater science return as a result. The Interactive 3D Mars surface view is a Mars terrain browsing software interface that encompasses the entire region of exploration for a Mars surface exploration mission. The view is interactive, allowing the user to pan in any direction by clicking and dragging, or to zoom in or out by scrolling the mouse or touchpad. This set currently includes tools for selecting a point of interest, and a ruler tool for displaying the distance between and positions of two points of interest. The mapping information can be harvested and shared through ubiquitous online mapping tools like Google Mars, NASA WorldWind, and Worldwide Telescope.

Identification of functional SNPs in the 5-prime flanking sequences of human genes

Directory of Open Access Journals (Sweden)

Lenhard Boris

2005-02-01

Full Text Available Abstract Background Over 4 million single nucleotide polymorphisms (SNPs are currently reported to exist within the human genome. Only a small fraction of these SNPs alter gene function or expression, and therefore might be associated with a cell phenotype. These functional SNPs are consequently important in understanding human health. Information related to functional SNPs in candidate disease genes is critical for cost effective genetic association studies, which attempt to understand the genetics of complex diseases like diabetes, Alzheimer's, etc. Robust methods for the identification of functional SNPs are therefore crucial. We report one such experimental approach. Results Sequence conserved between mouse and human genomes, within 5 kilobases of the 5-prime end of 176 GPCR genes, were screened for SNPs. Sequences flanking these SNPs were scored for transcription factor binding sites. Allelic pairs resulting in a significant score difference were predicted to influence the binding of transcription factors (TFs. Ten such SNPs were selected for mobility shift assays (EMSA, resulting in 7 of them exhibiting a reproducible shift. The full-length promoter regions with 4 of the 7 SNPs were cloned in a Luciferase based plasmid reporter system. Two out of the 4 SNPs exhibited differential promoter activity in several human cell lines. Conclusions We propose a method for effective selection of functional, regulatory SNPs that are located in evolutionary conserved 5-prime flanking regions (5'-FR regions of human genes and influence the activity of the transcriptional regulatory region. Some SNPs behave differently in different cell types.

Optimization of interactive visual-similarity-based search

NARCIS (Netherlands)

Nguyen, G.P.; Worring, M.

2008-01-01

At one end of the spectrum, research in interactive content-based retrieval concentrates on machine learning methods for effective use of relevance feedback. On the other end, the information visualization community focuses on effective methods for conveying information to the user. What is lacking

Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease

Directory of Open Access Journals (Sweden)

Kullo Iftikhar J

2011-04-01

Full Text Available Abstract Background We hypothesized that the frequencies of risk alleles of SNPs mediating susceptibility to cardiovascular diseases differ among populations of varying geographic origin and that population-specific selection has operated on some of these variants. Methods From the database of genome-wide association studies (GWAS, we selected 36 cardiovascular phenotypes including coronary heart disease, hypertension, and stroke, as well as related quantitative traits (eg, body mass index and plasma lipid levels. We identified 292 SNPs in 270 genes associated with a disease or trait at P -8. As part of the Human Genome-Diversity Project (HGDP, 158 (54.1% of these SNPs have been genotyped in 938 individuals belonging to 52 populations from seven geographic areas. A measure of population differentiation, FST, was calculated to quantify differences in risk allele frequencies (RAFs among populations and geographic areas. Results Large differences in RAFs were noted in populations of Africa, East Asia, America and Oceania, when compared with other geographic regions. The mean global FST (0.1042 for 158 SNPs among the populations was not significantly higher than the mean global FST of 158 autosomal SNPs randomly sampled from the HGDP database. Significantly higher global FST (P FST of 2036 putatively neutral SNPs. For four of these SNPs, additional evidence of selection was noted based on the integrated Haplotype Score. Conclusion Large differences in RAFs for a set of common SNPs that influence risk of cardiovascular disease were noted between the major world populations. Pairwise comparisons revealed RAF differences for at least eight SNPs that might be due to population-specific selection or demographic factors. These findings are relevant to a better understanding of geographic variation in the prevalence of cardiovascular disease.

Temporal Sequence of Visuo-Auditory Interaction in Multiple Areas of the Guinea Pig Visual Cortex

Science.gov (United States)

Nishimura, Masataka; Song, Wen-Jie

2012-01-01

Recent studies in humans and monkeys have reported that acoustic stimulation influences visual responses in the primary visual cortex (V1). Such influences can be generated in V1, either by direct auditory projections or by feedback projections from extrastriate cortices. To test these hypotheses, cortical activities were recorded using optical imaging at a high spatiotemporal resolution from multiple areas of the guinea pig visual cortex, to visual and/or acoustic stimulations. Visuo-auditory interactions were evaluated according to differences between responses evoked by combined auditory and visual stimulation, and the sum of responses evoked by separate visual and auditory stimulations. Simultaneous presentation of visual and acoustic stimulations resulted in significant interactions in V1, which occurred earlier than in other visual areas. When acoustic stimulation preceded visual stimulation, significant visuo-auditory interactions were detected only in V1. These results suggest that V1 is a cortical origin of visuo-auditory interaction. PMID:23029483

Towards Interactive Visual Exploration of Parallel Programs using a Domain-Specific Language

KAUST Repository

Klein, Tobias; Bruckner, Stefan; Grö ller, M. Eduard; Hadwiger, Markus; Rautek, Peter

2016-01-01

The use of GPUs and the massively parallel computing paradigm have become wide-spread. We describe a framework for the interactive visualization and visual analysis of the run-time behavior of massively parallel programs, especially OpenCL kernels. This facilitates understanding a program's function and structure, finding the causes of possible slowdowns, locating program bugs, and interactively exploring and visually comparing different code variants in order to improve performance and correctness. Our approach enables very specific, user-centered analysis, both in terms of the recording of the run-time behavior and the visualization itself. Instead of having to manually write instrumented code to record data, simple code annotations tell the source-to-source compiler which code instrumentation to generate automatically. The visualization part of our framework then enables the interactive analysis of kernel run-time behavior in a way that can be very specific to a particular problem or optimization goal, such as analyzing the causes of memory bank conflicts or understanding an entire parallel algorithm.

Towards Interactive Visual Exploration of Parallel Programs using a Domain-Specific Language

KAUST Repository

Klein, Tobias

2016-04-19

The use of GPUs and the massively parallel computing paradigm have become wide-spread. We describe a framework for the interactive visualization and visual analysis of the run-time behavior of massively parallel programs, especially OpenCL kernels. This facilitates understanding a program\\'s function and structure, finding the causes of possible slowdowns, locating program bugs, and interactively exploring and visually comparing different code variants in order to improve performance and correctness. Our approach enables very specific, user-centered analysis, both in terms of the recording of the run-time behavior and the visualization itself. Instead of having to manually write instrumented code to record data, simple code annotations tell the source-to-source compiler which code instrumentation to generate automatically. The visualization part of our framework then enables the interactive analysis of kernel run-time behavior in a way that can be very specific to a particular problem or optimization goal, such as analyzing the causes of memory bank conflicts or understanding an entire parallel algorithm.

A multianalytical approach to evaluate the association of 55 SNPs in 28 genes with obesity risk in North Indian adults.

Science.gov (United States)

Srivastava, Apurva; Mittal, Balraj; Prakash, Jai; Srivastava, Pranjal; Srivastava, Nimisha; Srivastava, Neena

2017-03-01

The aim of the study was to investigate the association of 55 SNPs in 28 genes with obesity risk in a North Indian population using a multianalytical approach. Overall, 480 subjects from the North Indian population were studied using strict inclusion/exclusion criteria. SNP Genotyping was carried out by Sequenom Mass ARRAY platform (Sequenom, San Diego, CA) and validated Taqman ® allelic discrimination (Applied Biosystems ® ). Statistical analyses were performed using SPSS software version 19.0, SNPStats, GMDR software (version 6) and GENEMANIA. Logistic regression analysis of 55 SNPs revealed significant associations (P obesity risk whereas the remaining 6 SNPs revealed no association (P > .05). The pathway-wise G-score revealed the significant role (P = .0001) of food intake-energy expenditure pathway genes. In CART analysis, the combined genotypes of FTO rs9939609 and TCF7L2 rs7903146 revealed the highest risk for BMI linked obesity. The analysis of the FTO-IRX3 locus revealed high LD and high order gene-gene interactions for BMI linked obesity. The interaction network of all of the associated genes in the present study generated by GENEMANIA revealed direct and indirect connections. In addition, the analysis with centralized obesity revealed that none of the SNPs except for FTO rs17818902 were significantly associated (P obesity risk in the North Indian population. © 2016 Wiley Periodicals, Inc.

Impact of SNPs on Protein Phosphorylation Status in Rice (Oryza sativa L.

Directory of Open Access Journals (Sweden)

Shoukai Lin

2016-11-01

Full Text Available Single nucleotide polymorphisms (SNPs are widely used in functional genomics and genetics research work. The high-quality sequence of rice genome has provided a genome-wide SNP and proteome resource. However, the impact of SNPs on protein phosphorylation status in rice is not fully understood. In this paper, we firstly updated rice SNP resource based on the new rice genome Ver. 7.0, then systematically analyzed the potential impact of Non-synonymous SNPs (nsSNPs on the protein phosphorylation status. There were 3,897,312 SNPs in Ver. 7.0 rice genome, among which 9.9% was nsSNPs. Whilst, a total 2,508,261 phosphorylated sites were predicted in rice proteome. Interestingly, we observed that 150,197 (39.1% nsSNPs could influence protein phosphorylation status, among which 52.2% might induce changes of protein kinase (PK types for adjacent phosphorylation sites. We constructed a database, SNP_rice, to deposit the updated rice SNP resource and phosSNPs information. It was freely available to academic researchers at http://bioinformatics.fafu.edu.cn. As a case study, we detected five nsSNPs that potentially influenced heterotrimeric G proteins phosphorylation status in rice, indicating that genetic polymorphisms showed impact on the signal transduction by influencing the phosphorylation status of heterotrimeric G proteins. The results in this work could be a useful resource for future experimental identification and provide interesting information for better rice breeding.

Use of interactive data visualization in multi-objective forest planning.

Science.gov (United States)

Haara, Arto; Pykäläinen, Jouni; Tolvanen, Anne; Kurttila, Mikko

2018-03-15

Common to multi-objective forest planning situations is that they all require comparisons, searches and evaluation among decision alternatives. Through these actions, the decision maker can learn from the information presented and thus make well-justified decisions. Interactive data visualization is an evolving approach that supports learning and decision making in multidimensional decision problems and planning processes. Data visualization contributes the formation of mental image data and this process is further boosted by allowing interaction with the data. In this study, we introduce a multi-objective forest planning decision problem framework and the corresponding characteristics of data. We utilize the framework with example planning data to illustrate and evaluate the potential of 14 interactive data visualization techniques to support multi-objective forest planning decisions. Furthermore, broader utilization possibilities of these techniques to incorporate the provisioning of ecosystem services into forest management and planning are discussed. Copyright © 2018 Elsevier Ltd. All rights reserved.

Dynamic Interactions for Network Visualization and Simulation

Science.gov (United States)

2009-03-01

projects.htm, Site accessed January 5, 2009. 12. John S. Weir, Major, USAF, Mediated User-Simulator Interactive Command with Visualization ( MUSIC -V). Master’s...Computing Sciences in Colleges, December 2005). 14. Enrique Campos -Nanez, “nscript user manual,” Department of System Engineer- ing University of

Dynamic interactions between visual working memory and saccade target selection

Science.gov (United States)

Schneegans, Sebastian; Spencer, John P.; Schöner, Gregor; Hwang, Seongmin; Hollingworth, Andrew

2014-01-01

Recent psychophysical experiments have shown that working memory for visual surface features interacts with saccadic motor planning, even in tasks where the saccade target is unambiguously specified by spatial cues. Specifically, a match between a memorized color and the color of either the designated target or a distractor stimulus influences saccade target selection, saccade amplitudes, and latencies in a systematic fashion. To elucidate these effects, we present a dynamic neural field model in combination with new experimental data. The model captures the neural processes underlying visual perception, working memory, and saccade planning relevant to the psychophysical experiment. It consists of a low-level visual sensory representation that interacts with two separate pathways: a spatial pathway implementing spatial attention and saccade generation, and a surface feature pathway implementing color working memory and feature attention. Due to bidirectional coupling between visual working memory and feature attention in the model, the working memory content can indirectly exert an effect on perceptual processing in the low-level sensory representation. This in turn biases saccadic movement planning in the spatial pathway, allowing the model to quantitatively reproduce the observed interaction effects. The continuous coupling between representations in the model also implies that modulation should be bidirectional, and model simulations provide specific predictions for complementary effects of saccade target selection on visual working memory. These predictions were empirically confirmed in a new experiment: Memory for a sample color was biased toward the color of a task-irrelevant saccade target object, demonstrating the bidirectional coupling between visual working memory and perceptual processing. PMID:25228628

Dynamic interactions between visual working memory and saccade target selection.

Science.gov (United States)

Schneegans, Sebastian; Spencer, John P; Schöner, Gregor; Hwang, Seongmin; Hollingworth, Andrew

2014-09-16

Recent psychophysical experiments have shown that working memory for visual surface features interacts with saccadic motor planning, even in tasks where the saccade target is unambiguously specified by spatial cues. Specifically, a match between a memorized color and the color of either the designated target or a distractor stimulus influences saccade target selection, saccade amplitudes, and latencies in a systematic fashion. To elucidate these effects, we present a dynamic neural field model in combination with new experimental data. The model captures the neural processes underlying visual perception, working memory, and saccade planning relevant to the psychophysical experiment. It consists of a low-level visual sensory representation that interacts with two separate pathways: a spatial pathway implementing spatial attention and saccade generation, and a surface feature pathway implementing color working memory and feature attention. Due to bidirectional coupling between visual working memory and feature attention in the model, the working memory content can indirectly exert an effect on perceptual processing in the low-level sensory representation. This in turn biases saccadic movement planning in the spatial pathway, allowing the model to quantitatively reproduce the observed interaction effects. The continuous coupling between representations in the model also implies that modulation should be bidirectional, and model simulations provide specific predictions for complementary effects of saccade target selection on visual working memory. These predictions were empirically confirmed in a new experiment: Memory for a sample color was biased toward the color of a task-irrelevant saccade target object, demonstrating the bidirectional coupling between visual working memory and perceptual processing. © 2014 ARVO.

Visualization and targeted disruption of protein interactions in living cells

Science.gov (United States)

Herce, Henry D.; Deng, Wen; Helma, Jonas; Leonhardt, Heinrich; Cardoso, M. Cristina

2013-01-01

Protein–protein interactions are the basis of all processes in living cells, but most studies of these interactions rely on biochemical in vitro assays. Here we present a simple and versatile fluorescent-three-hybrid (F3H) strategy to visualize and target protein–protein interactions. A high-affinity nanobody anchors a GFP-fusion protein of interest at a defined cellular structure and the enrichment of red-labelled interacting proteins is measured at these sites. With this approach, we visualize the p53–HDM2 interaction in living cells and directly monitor the disruption of this interaction by Nutlin 3, a drug developed to boost p53 activity in cancer therapy. We further use this approach to develop a cell-permeable vector that releases a highly specific peptide disrupting the p53 and HDM2 interaction. The availability of multiple anchor sites and the simple optical readout of this nanobody-based capture assay enable systematic and versatile analyses of protein–protein interactions in practically any cell type and species. PMID:24154492

Visualizing the quantum interaction picture in phase space

International Nuclear Information System (INIS)

Mehmani, Bahar; Aiello, Andrea

2012-01-01

We present a graphical example of the interaction picture-time evolution. Our aim is to help students understand in a didactic manner the simplicity that this picture provides. Visualizing the interaction picture unveils its advantages, which are hidden behind the involved mathematics. Specifically, we show that the time evolution of a driven harmonic oscillator in the interaction picture corresponds to a local transformation of a phase space-reference frame into the one that is co-rotating with the Wigner function. (paper)

Interactive client side data visualization with d3.js

Science.gov (United States)

Rodzianko, A.; Versteeg, R.; Johnson, D. V.; Soltanian, M. R.; Versteeg, O. J.; Girouard, M.

2015-12-01

Geoscience data associated with near surface research and operational sites is increasingly voluminous and heterogeneous (both in terms of providers and data types - e.g. geochemical, hydrological, geophysical, modeling data, of varying spatiotemporal characteristics). Such data allows scientists to investigate fundamental hydrological and geochemical processes relevant to agriculture, water resources and climate change. For scientists to easily share, model and interpret such data requires novel tools with capabilities for interactive data visualization. Under sponsorship of the US Department of Energy, Subsurface Insights is developing the Predictive Assimilative Framework (PAF): a cloud based subsurface monitoring platform which can manage, process and visualize large heterogeneous datasets. Over the last year we transitioned our visualization method from a server side approach (in which images and animations were generated using Jfreechart and Visit) to a client side one that utilizes the D3 Javascript library. Datasets are retrieved using web service calls to the server, returned as JSON objects and visualized within the browser. Users can interactively explore primary and secondary datasets from various field locations. Our current capabilities include interactive data contouring and heterogeneous time series data visualization. While this approach is very powerful and not necessarily unique, special attention needs to be paid to latency and responsiveness issues as well as to issues as cross browser code compatibility so that users have an identical, fluid and frustration-free experience across different computational platforms. We gratefully acknowledge support from the US Department of Energy under SBIR Award DOE DE-SC0009732, the use of data from the Lawrence Berkeley National Laboratory (LBNL) Sustainable Systems SFA Rifle field site and collaboration with LBNL SFA scientists.

Interactive Visual Analysis for Organic Photovoltaic Solar Cells

KAUST Repository

Abouelhassan, Amal A.

2017-12-05

Organic Photovoltaic (OPV) solar cells provide a promising alternative for harnessing solar energy. However, the efficient design of OPV materials that achieve better performance requires support by better-tailored visualization tools than are currently available, which is the goal of this thesis. One promising approach in the OPV field is to control the effective material of the OPV device, which is known as the Bulk-Heterojunction (BHJ) morphology. The BHJ morphology has a complex composition. Current BHJ exploration techniques deal with the morphologies as black boxes with no perception of the photoelectric current in the BHJ morphology. Therefore, this method depends on a trial-and-error approach and does not efficiently characterize complex BHJ morphologies. On the other hand, current state-of-the-art methods for assessing the performance of BHJ morphologies are based on the global quantification of morphological features. Accordingly, scientists in OPV research are still lacking a sufficient understanding of the best material design. To remove these limitations, we propose a new approach for knowledge-assisted visual exploration and analysis in the OPV domain. We develop new techniques for enabling efficient OPV charge transport path analysis. We employ, adapt, and develop techniques from scientific visualization, geometric modeling, clustering, and visual interaction to obtain new designs of visualization tools that are specifically tailored for the needs of OPV scientists. At the molecular scale, the user can use semantic rules to define clusters of atoms with certain geometric properties. At the nanoscale, we propose a novel framework for visual characterization and exploration of local structure-performance correlations. We also propose a new approach for correlating structural features to performance bottlenecks. We employ a visual feedback strategy that allows scientists to make intuitive choices about fabrication parameters. We furthermore propose a

Market potential for interactive audio-visual media

NARCIS (Netherlands)

Leurdijk, A.; Limonard, S.

2005-01-01

NM2 (New Media for a New Millennium) develops tools for interactive, personalised and non-linear audio-visual content that will be tested in seven pilot productions. This paper looks at the market potential for these productions from a technological, a business and a users' perspective. It shows

Interactions of six SNPs in APOA1 gene and types of obesity on low HDL-C disease in Xinjiang pastoral area of China.

Science.gov (United States)

Wang, Xinping; He, Jia; Guo, Heng; Mu, Lati; Hu, Yunhua; Ma, Jiaolong; Yan, Yizhong; Ma, Rulin; Li, Shugang; Ding, Yusong; Zhang, Mei; Niu, Qiang; Liu, Jiaming; Zhang, Jingyu; Guo, Shuxia

2017-10-02

This study aims to investigate association between six single nucleotide polymorphisms(SNPs) in APOA1 gene and types of obesity with the risk of low level HDL-C in the pastoral area of northwest China. A total of 1267 individuals including 424 patients with low HDL-C disease and 843 health subjects were analyzed based on matched for age, sex. SNPShot technique was used to detect the genotypes of rs670, rs5069, rs5072, rs7116797, rs2070665 and rs1799837 in APOA1 gene. The relationship between above six SNPs and types of obesity with low HDL-C disease was analyzed by binary logistic regression. Carriers with rs670 G allele were more likely to get low HDL-C disease (OR = 1.46, OR95%CI: 1.118-1.915; P = 0.005); The genotypic and allelic frequencies of rs5069, rs5072, rs7116797, rs2070665, rs1799837 revealed no significant differences between cases and controls (P obesity measured by BMI had 2.686 times (OR95%CI: 1.695-4.256; P obesity measured by WC had 1.925 times (OR95%CI: 1.273-2.910; P = 0.002) and abdominal obesity measured by WHR had 1.640 times (OR95%CI: 1.114-2.416; P = 0.012) risk to get low HDL-C disease; APOA1 rs670 interacted with obesity (no matter general obesity or abdominal obesity) on low HDL-C disease. APOA1 gene may be associated with low HDL-C disease in the pastoral area of northwest China; obesity was the risk factor for low HDL-C disease; the low HDL-C disease is influenced by APOA1, obesity, and their interactions.

Four new single nucleotide polymorphisms (SNPs) of toll-like ...

African Journals Online (AJOL)

In order to reveal the single nucleotide polymorphisms (SNPs), genotypes and allelic frequencies of each mutation site of TLR7 gene in Chinese native duck breeds, SNPs of duck TLR7 gene were detected by DNA sequencing. The genotypes of 465 native ducks from eight key protected duck breeds were determined by ...

Genotyping of 75 SNPs using arrays for individual identification in five population groups.

Science.gov (United States)

Hwa, Hsiao-Lin; Wu, Lawrence Shih Hsin; Lin, Chun-Yen; Huang, Tsun-Ying; Yin, Hsiang-I; Tseng, Li-Hui; Lee, James Chun-I

2016-01-01

Single nucleotide polymorphism (SNP) typing offers promise to forensic genetics. Various strategies and panels for analyzing SNP markers for individual identification have been published. However, the best panels with fewer identity SNPs for all major population groups are still under discussion. This study aimed to find more autosomal SNPs with high heterozygosity for individual identification among Asian populations. Ninety-six autosomal SNPs of 502 DNA samples from unrelated individuals of five population groups (208 Taiwanese Han, 83 Filipinos, 62 Thais, 69 Indonesians, and 80 individuals with European, Near Eastern, or South Asian ancestry) were analyzed using arrays in an initial screening, and 75 SNPs (group A, 46 newly selected SNPs; groups B, 29 SNPs based on a previous SNP panel) were selected for further statistical analyses. Some SNPs with high heterozygosity from Asian populations were identified. The combined random match probability of the best 40 and 45 SNPs was between 3.16 × 10(-17) and 7.75 × 10(-17) and between 2.33 × 10(-19) and 7.00 × 10(-19), respectively, in all five populations. These loci offer comparable power to short tandem repeats (STRs) for routine forensic profiling. In this study, we demonstrated the population genetic characteristics and forensic parameters of 75 SNPs with high heterozygosity from five population groups. This SNPs panel can provide valuable genotypic information and can be helpful in forensic casework for individual identification among these populations.

An Interactive Approach to Learning and Teaching in Visual Arts Education

Science.gov (United States)

Tomljenovic, Zlata

2015-01-01

The present research focuses on modernising the approach to learning and teaching the visual arts in teaching practice, as well as examining the performance of an interactive approach to learning and teaching in visual arts classes with the use of a combination of general and specific (visual arts) teaching methods. The study uses quantitative…

Acquired auditory-visual synesthesia: A window to early cross-modal sensory interactions

Directory of Open Access Journals (Sweden)

Pegah Afra

2009-01-01

Full Text Available Pegah Afra, Michael Funke, Fumisuke MatsuoDepartment of Neurology, University of Utah, Salt Lake City, UT, USAAbstract: Synesthesia is experienced when sensory stimulation of one sensory modality elicits an involuntary sensation in another sensory modality. Auditory-visual synesthesia occurs when auditory stimuli elicit visual sensations. It has developmental, induced and acquired varieties. The acquired variety has been reported in association with deafferentation of the visual system as well as temporal lobe pathology with intact visual pathways. The induced variety has been reported in experimental and post-surgical blindfolding, as well as intake of hallucinogenic or psychedelics. Although in humans there is no known anatomical pathway connecting auditory areas to primary and/or early visual association areas, there is imaging and neurophysiologic evidence to the presence of early cross modal interactions between the auditory and visual sensory pathways. Synesthesia may be a window of opportunity to study these cross modal interactions. Here we review the existing literature in the acquired and induced auditory-visual synesthesias and discuss the possible neural mechanisms.Keywords: synesthesia, auditory-visual, cross modal

Identification of SNPs in chemerin gene and association with ...

African Journals Online (AJOL)

Chemerin is a novel adipokine that regulates adipogenesis and adipocyte metabolism via its own receptor. In this study, two novel SNPs (868A>G in exon 2 and 2692C>T in exon 5) of chemerin gene were identified by PCR-SSCP and DNA sequencing technology. The allele frequencies of the novel SNPs were determined ...

Interactive 3D visualization for theoretical virtual observatories

Science.gov (United States)

Dykes, T.; Hassan, A.; Gheller, C.; Croton, D.; Krokos, M.

2018-06-01

Virtual observatories (VOs) are online hubs of scientific knowledge. They encompass a collection of platforms dedicated to the storage and dissemination of astronomical data, from simple data archives to e-research platforms offering advanced tools for data exploration and analysis. Whilst the more mature platforms within VOs primarily serve the observational community, there are also services fulfilling a similar role for theoretical data. Scientific visualization can be an effective tool for analysis and exploration of data sets made accessible through web platforms for theoretical data, which often contain spatial dimensions and properties inherently suitable for visualization via e.g. mock imaging in 2D or volume rendering in 3D. We analyse the current state of 3D visualization for big theoretical astronomical data sets through scientific web portals and virtual observatory services. We discuss some of the challenges for interactive 3D visualization and how it can augment the workflow of users in a virtual observatory context. Finally we showcase a lightweight client-server visualization tool for particle-based data sets, allowing quantitative visualization via data filtering, highlighting two example use cases within the Theoretical Astrophysical Observatory.

Interactive 3D Visualization for Theoretical Virtual Observatories

Science.gov (United States)

Dykes, Tim; Hassan, A.; Gheller, C.; Croton, D.; Krokos, M.

2018-04-01

Virtual Observatories (VOs) are online hubs of scientific knowledge. They encompass a collection of platforms dedicated to the storage and dissemination of astronomical data, from simple data archives to e-research platforms offering advanced tools for data exploration and analysis. Whilst the more mature platforms within VOs primarily serve the observational community, there are also services fulfilling a similar role for theoretical data. Scientific visualization can be an effective tool for analysis and exploration of datasets made accessible through web platforms for theoretical data, which often contain spatial dimensions and properties inherently suitable for visualization via e.g. mock imaging in 2d or volume rendering in 3d. We analyze the current state of 3d visualization for big theoretical astronomical datasets through scientific web portals and virtual observatory services. We discuss some of the challenges for interactive 3d visualization and how it can augment the workflow of users in a virtual observatory context. Finally we showcase a lightweight client-server visualization tool for particle-based datasets allowing quantitative visualization via data filtering, highlighting two example use cases within the Theoretical Astrophysical Observatory.

SNPsnap: a Web-based tool for identification and annotation of matched SNPs

DEFF Research Database (Denmark)

Pers, Tune Hannes; Timshel, Pascal; Hirschhorn, Joel N.

2015-01-01

-localization of GWAS signals to gene-dense and high linkage disequilibrium (LD) regions, and correlations of gene size, location and function. The SNPsnap Web server enables SNP-based enrichment analysis by providing matched sets of SNPs that can be used to calibrate background expectations. Specifically, SNPsnap...... efficiently identifies sets of randomly drawn SNPs that are matched to a set of query SNPs based on allele frequency, number of SNPs in LD, distance to nearest gene and gene density. Availability and implementation : SNPsnap server is available at http://www.broadinstitute.org/mpg/snpsnap/. Contact: joelh...

Effects of visual priming on taste-odor interaction.

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Marije van Beilen

Full Text Available Little is known about the influence of visual characteristics other than colour on flavor perception, and the complex interactions between more than two sensory modalities. This study focused on the effects of recognizability of visual (texture information on flavor perception of odorized sweet beverages. Participants rated the perceived sweetness of odorized sucrose solutions in the presence or absence of either a congruent or incongruent visual context. Odors were qualitatively reminiscent of sweet foods (strawberry and caramel or not (savoury. Visual context was either an image of the same sweet foods (figurative context or a visual texture derived from this product (non-figurative context. Textures were created using a texture synthesis method that preserved perceived food qualities while removing object information. Odor-taste combinations were rated sweeter within a figurative than a non-figurative context. This behaviour was exhibited for all odor-taste combinations, even in trials without images, indicating sustained priming by figurative visual context. A non-figurative context showed a transient sweetening effect. Sweetness was generally enhanced most by the strawberry odor. We conclude that the degree of recognizability of visual information (figurative versus non-figurative, influences flavor perception differently. Our results suggest that this visual context priming is mediated by separate sustained and transient processes that are differently evoked by figurative and non-figurative visual contexts. These components operate independent of the congruency of the image-odor-taste combinations.

Visualizing knowledge interaction in the multiverse of knowledge

NARCIS (Netherlands)

van den Heuvel, C.; Smiraglia, R.; Slavic, A.; Akdag Salah, A.; Davies, S.

2013-01-01

This paper discusses early experiments of Paul Otlet that visualize multidimensional knowledge organization and interaction. It examines their potential for future information retrieval. "Likeness" has been a recurrent theme in classification theory; here we discuss the concept of "likeliness" and

Does seeing ice really feel cold? Visual-thermal interaction under an illusory body-ownership.

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Shoko Kanaya

Full Text Available Although visual information seems to affect thermal perception (e.g. red color is associated with heat, previous studies have failed to demonstrate the interaction between visual and thermal senses. However, it has been reported that humans feel an illusory thermal sensation in conjunction with an apparently-thermal visual stimulus placed on a prosthetic hand in the rubber hand illusion (RHI wherein an individual feels that a prosthetic (rubber hand belongs to him/her. This study tests the possibility that the ownership of the body surface on which a visual stimulus is placed enhances the likelihood of a visual-thermal interaction. We orthogonally manipulated three variables: induced hand-ownership, visually-presented thermal information, and tactically-presented physical thermal information. Results indicated that the sight of an apparently-thermal object on a rubber hand that is illusorily perceived as one's own hand affects thermal judgments about the object physically touching this hand. This effect was not observed without the RHI. The importance of ownership of a body part that is touched by the visual object on the visual-thermal interaction is discussed.

What you say matters: exploring visual-verbal interactions in visual working memory.

Science.gov (United States)

Mate, Judit; Allen, Richard J; Baqués, Josep

2012-01-01

The aim of this study was to explore whether the content of a simple concurrent verbal load task determines the extent of its interference on memory for coloured shapes. The task consisted of remembering four visual items while repeating aloud a pair of words that varied in terms of imageability and relatedness to the task set. At test, a cue appeared that was either the colour or the shape of one of the previously seen objects, with participants required to select the object's other feature from a visual array. During encoding and retention, there were four verbal load conditions: (a) a related, shape-colour pair (from outside the experimental set, i.e., "pink square"); (b) a pair of unrelated but visually imageable, concrete, words (i.e., "big elephant"); (c) a pair of unrelated and abstract words (i.e., "critical event"); and (d) no verbal load. Results showed differential effects of these verbal load conditions. In particular, imageable words (concrete and related conditions) interfered to a greater degree than abstract words. Possible implications for how visual working memory interacts with verbal memory and long-term memory are discussed.

Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease

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Tariq Ahmad Masoodi

2012-01-01

Full Text Available Introduction. Apolipoprotein E (APOE is an important risk factor for Alzheimer’s disease (AD and is present in 30–50% of patients who develop late-onset AD. Several single-nucleotide polymorphisms (SNPs are present in APOE gene which act as the biomarkers for exploring the genetic basis of this disease. The objective of this study is to identify deleterious nsSNPs associated with APOE gene. Methods. The SNPs were retrieved from dbSNP. Using I-Mutant, protein stability change was calculated. The potentially functional nonsynonymous (ns SNPs and their effect on protein was predicted by PolyPhen and SIFT, respectively. FASTSNP was used for functional analysis and estimation of risk score. The functional impact on the APOE protein was evaluated by using Swiss PDB viewer and NOMAD-Ref server. Results. Six nsSNPs were found to be least stable by I-Mutant 2.0 with DDG value of >−1.0. Four nsSNPs showed a highly deleterious tolerance index score of 0.00. Nine nsSNPs were found to be probably damaging with position-specific independent counts (PSICs score of ≥2.0. Seven nsSNPs were found to be highly polymorphic with a risk score of 3-4. The total energies and root-mean-square deviation (RMSD values were higher for three mutant-type structures compared to the native modeled structure. Conclusion. We concluded that three nsSNPs, namely, rs11542041, rs11542040, and rs11542034, to be potentially functional polymorphic.

A Study of Layout, Rendering, and Interaction Methods for Immersive Graph Visualization.

Science.gov (United States)

Kwon, Oh-Hyun; Muelder, Chris; Lee, Kyungwon; Ma, Kwan-Liu

2016-07-01

Information visualization has traditionally limited itself to 2D representations, primarily due to the prevalence of 2D displays and report formats. However, there has been a recent surge in popularity of consumer grade 3D displays and immersive head-mounted displays (HMDs). The ubiquity of such displays enables the possibility of immersive, stereoscopic visualization environments. While techniques that utilize such immersive environments have been explored extensively for spatial and scientific visualizations, contrastingly very little has been explored for information visualization. In this paper, we present our considerations of layout, rendering, and interaction methods for visualizing graphs in an immersive environment. We conducted a user study to evaluate our techniques compared to traditional 2D graph visualization. The results show that participants answered significantly faster with a fewer number of interactions using our techniques, especially for more difficult tasks. While the overall correctness rates are not significantly different, we found that participants gave significantly more correct answers using our techniques for larger graphs.

An Interactive Approach to Learning and Teaching in Visual Arts Education

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Zlata Tomljenović

2015-09-01

Full Text Available The present research focuses on modernising the approach to learning and teaching the visual arts in teaching practice, as well as examining the performance of an interactive approach to learning and teaching in visual arts classes with the use of a combination of general and specific (visual arts teaching methods. The study uses quantitative analysis of data on the basis of results obtained from a pedagogical experiment. The subjects of the research were 285 second- and fourth-grade students from four primary schools in the city of Rijeka, Croatia. Paintings made by the students in the initial and final stage of the pedagogical experiment were evaluated. The research results confirmed the hypotheses about the positive effect of interactive approaches to learning and teaching on the following variables: (1 knowledge and understanding of visual arts terms, (2 abilities and skills in the use of art materials and techniques within the framework of planned painting tasks, and (3 creativity in solving visual arts problems. The research results can help shape an optimised model for the planning and performance of visual arts education, and provide guidelines for planning professional development and the further professional education of teachers, with the aim of establishing more efficient learning and teaching of the visual arts in primary school.

Rapid multiplex high resolution melting method to analyze inflammatory related SNPs in preterm birth

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Pereyra Silvana

2012-01-01

Full Text Available Abstract Background Complex traits like cancer, diabetes, obesity or schizophrenia arise from an intricate interaction between genetic and environmental factors. Complex disorders often cluster in families without a clear-cut pattern of inheritance. Genomic wide association studies focus on the detection of tens or hundreds individual markers contributing to complex diseases. In order to test if a subset of single nucleotide polymorphisms (SNPs from candidate genes are associated to a condition of interest in a particular individual or group of people, new techniques are needed. High-resolution melting (HRM analysis is a new method in which polymerase chain reaction (PCR and mutations scanning are carried out simultaneously in a closed tube, making the procedure fast, inexpensive and easy. Preterm birth (PTB is considered a complex disease, where genetic and environmental factors interact to carry out the delivery of a newborn before 37 weeks of gestation. It is accepted that inflammation plays an important role in pregnancy and PTB. Methods Here, we used real time-PCR followed by HRM analysis to simultaneously identify several gene variations involved in inflammatory pathways on preterm labor. SNPs from TLR4, IL6, IL1 beta and IL12RB genes were analyzed in a case-control study. The results were confirmed either by sequencing or by PCR followed by restriction fragment length polymorphism. Results We were able to simultaneously recognize the variations of four genes with similar accuracy than other methods. In order to obtain non-overlapping melting temperatures, the key step in this strategy was primer design. Genotypic frequencies found for each SNP are in concordance with those previously described in similar populations. None of the studied SNPs were associated with PTB. Conclusions Several gene variations related to the same inflammatory pathway were screened through a new flexible, fast and non expensive method with the purpose of analyzing

Interactive WebGL-based 3D visualizations for EAST experiment

International Nuclear Information System (INIS)

Xia, J.Y.; Xiao, B.J.; Li, Dan; Wang, K.R.

2016-01-01

Highlights: • Developing a user-friendly interface to visualize the EAST experimental data and the device is important to scientists and engineers. • The Web3D visualization system is based on HTML5 and WebGL, which runs without the need for plug-ins or third party components. • The interactive WebGL-based 3D visualization system is a web-portal integrating EAST 3D models, experimental data and plasma videos. • The original CAD model was discretized into different layers with different simplification to enable realistic rendering and improve performance. - Abstract: In recent years EAST (Experimental Advanced Superconducting Tokamak) experimental data are being shared and analyzed by an increasing number of international collaborators. Developing a user-friendly interface to visualize the data, meta data and the relevant parts of the device is becoming more and more important to aid scientists and engineers. Compared with the previous virtual EAST system based on VRML/Java3D [1] (Li et al., 2014), a new technology is being adopted to create a 3D visualization system based on HTML5 and WebGL, which runs without the need for plug-ins or third party components. The interactive WebGL-based 3D visualization system is a web-portal integrating EAST 3D models, experimental data and plasma videos. It offers a highly interactive interface allowing scientists to roam inside EAST device and view the complex 3-D structure of the machine. It includes technical details of the device and various diagnostic components, and provides visualization of diagnostic metadata with a direct link to each signal name and its stored data. In order for the quick access to the device 3D model, the original CAD model was discretized into different layers with different simplification. It allows users to search for plasma videos in any experiment and analyze the video frame by frame. In this paper, we present the implementation details to enable realistic rendering and improve performance.

Interactive WebGL-based 3D visualizations for EAST experiment

Energy Technology Data Exchange (ETDEWEB)

Xia, J.Y., E-mail: jyxia@ipp.ac.cn [Institute of Plasma Physics, Chinese Academy of Sciences, Hefei, Anhui (China); University of Science and Technology of China, Hefei, Anhui (China); Xiao, B.J. [Institute of Plasma Physics, Chinese Academy of Sciences, Hefei, Anhui (China); University of Science and Technology of China, Hefei, Anhui (China); Li, Dan [Institute of Plasma Physics, Chinese Academy of Sciences, Hefei, Anhui (China); Wang, K.R. [Institute of Plasma Physics, Chinese Academy of Sciences, Hefei, Anhui (China); University of Science and Technology of China, Hefei, Anhui (China)

2016-11-15

Highlights: • Developing a user-friendly interface to visualize the EAST experimental data and the device is important to scientists and engineers. • The Web3D visualization system is based on HTML5 and WebGL, which runs without the need for plug-ins or third party components. • The interactive WebGL-based 3D visualization system is a web-portal integrating EAST 3D models, experimental data and plasma videos. • The original CAD model was discretized into different layers with different simplification to enable realistic rendering and improve performance. - Abstract: In recent years EAST (Experimental Advanced Superconducting Tokamak) experimental data are being shared and analyzed by an increasing number of international collaborators. Developing a user-friendly interface to visualize the data, meta data and the relevant parts of the device is becoming more and more important to aid scientists and engineers. Compared with the previous virtual EAST system based on VRML/Java3D [1] (Li et al., 2014), a new technology is being adopted to create a 3D visualization system based on HTML5 and WebGL, which runs without the need for plug-ins or third party components. The interactive WebGL-based 3D visualization system is a web-portal integrating EAST 3D models, experimental data and plasma videos. It offers a highly interactive interface allowing scientists to roam inside EAST device and view the complex 3-D structure of the machine. It includes technical details of the device and various diagnostic components, and provides visualization of diagnostic metadata with a direct link to each signal name and its stored data. In order for the quick access to the device 3D model, the original CAD model was discretized into different layers with different simplification. It allows users to search for plasma videos in any experiment and analyze the video frame by frame. In this paper, we present the implementation details to enable realistic rendering and improve performance.

Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples

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HyoYoung Kim

2014-03-01

Full Text Available Single-nucleotide polymorphisms (SNPs have been emerging out of the efforts to research human diseases and ethnic disparities. A semantic network is needed for in-depth understanding of the impacts of SNPs, because phenotypes are modulated by complex networks, including biochemical and physiological pathways. We identified ethnicity-specific SNPs by eliminating overlapped SNPs from HapMap samples, and the ethnicity-specific SNPs were mapped to the UCSC RefGene lists. Ethnicity-specific genes were identified as follows: 22 genes in the USA (CEU individuals, 25 genes in the Japanese (JPT individuals, and 332 genes in the African (YRI individuals. To analyze the biologically functional implications for ethnicity-specific SNPs, we focused on constructing a semantic network model. Entities for the network represented by "Gene," "Pathway," "Disease," "Chemical," "Drug," "ClinicalTrials," "SNP," and relationships between entity-entity were obtained through curation. Our semantic modeling for ethnicity-specific SNPs showed interesting results in the three categories, including three diseases ("AIDS-associated nephropathy," "Hypertension," and "Pelvic infection", one drug ("Methylphenidate", and five pathways ("Hemostasis," "Systemic lupus erythematosus," "Prostate cancer," "Hepatitis C virus," and "Rheumatoid arthritis". We found ethnicity-specific genes using the semantic modeling, and the majority of our findings was consistent with the previous studies - that an understanding of genetic variability explained ethnicity-specific disparities.

A Markov blanket-based method for detecting causal SNPs in GWAS

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Han Bing

2010-04-01

Full Text Available Abstract Background Detecting epistatic interactions associated with complex and common diseases can help to improve prevention, diagnosis and treatment of these diseases. With the development of genome-wide association studies (GWAS, designing powerful and robust computational method for identifying epistatic interactions associated with common diseases becomes a great challenge to bioinformatics society, because the study of epistatic interactions often deals with the large size of the genotyped data and the huge amount of combinations of all the possible genetic factors. Most existing computational detection methods are based on the classification capacity of SNP sets, which may fail to identify SNP sets that are strongly associated with the diseases and introduce a lot of false positives. In addition, most methods are not suitable for genome-wide scale studies due to their computational complexity. Results We propose a new Markov Blanket-based method, DASSO-MB (Detection of ASSOciations using Markov Blanket to detect epistatic interactions in case-control GWAS. Markov blanket of a target variable T can completely shield T from all other variables. Thus, we can guarantee that the SNP set detected by DASSO-MB has a strong association with diseases and contains fewest false positives. Furthermore, DASSO-MB uses a heuristic search strategy by calculating the association between variables to avoid the time-consuming training process as in other machine-learning methods. We apply our algorithm to simulated datasets and a real case-control dataset. We compare DASSO-MB to other commonly-used methods and show that our method significantly outperforms other methods and is capable of finding SNPs strongly associated with diseases. Conclusions Our study shows that DASSO-MB can identify a minimal set of causal SNPs associated with diseases, which contains less false positives compared to other existing methods. Given the huge size of genomic dataset

Inferring Interaction Force from Visual Information without Using Physical Force Sensors.

Science.gov (United States)

Hwang, Wonjun; Lim, Soo-Chul

2017-10-26

In this paper, we present an interaction force estimation method that uses visual information rather than that of a force sensor. Specifically, we propose a novel deep learning-based method utilizing only sequential images for estimating the interaction force against a target object, where the shape of the object is changed by an external force. The force applied to the target can be estimated by means of the visual shape changes. However, the shape differences in the images are not very clear. To address this problem, we formulate a recurrent neural network-based deep model with fully-connected layers, which models complex temporal dynamics from the visual representations. Extensive evaluations show that the proposed learning models successfully estimate the interaction forces using only the corresponding sequential images, in particular in the case of three objects made of different materials, a sponge, a PET bottle, a human arm, and a tube. The forces predicted by the proposed method are very similar to those measured by force sensors.

Effective selection of informative SNPs and classification on the HapMap genotype data

Directory of Open Access Journals (Sweden)

Wang Lipo

2007-12-01

Full Text Available Abstract Background Since the single nucleotide polymorphisms (SNPs are genetic variations which determine the difference between any two unrelated individuals, the SNPs can be used to identify the correct source population of an individual. For efficient population identification with the HapMap genotype data, as few informative SNPs as possible are required from the original 4 million SNPs. Recently, Park et al. (2006 adopted the nearest shrunken centroid method to classify the three populations, i.e., Utah residents with ancestry from Northern and Western Europe (CEU, Yoruba in Ibadan, Nigeria in West Africa (YRI, and Han Chinese in Beijing together with Japanese in Tokyo (CHB+JPT, from which 100,736 SNPs were obtained and the top 82 SNPs could completely classify the three populations. Results In this paper, we propose to first rank each feature (SNP using a ranking measure, i.e., a modified t-test or F-statistics. Then from the ranking list, we form different feature subsets by sequentially choosing different numbers of features (e.g., 1, 2, 3, ..., 100. with top ranking values, train and test them by a classifier, e.g., the support vector machine (SVM, thereby finding one subset which has the highest classification accuracy. Compared to the classification method of Park et al., we obtain a better result, i.e., good classification of the 3 populations using on average 64 SNPs. Conclusion Experimental results show that the both of the modified t-test and F-statistics method are very effective in ranking SNPs about their classification capabilities. Combined with the SVM classifier, a desirable feature subset (with the minimum size and most informativeness can be quickly found in the greedy manner after ranking all SNPs. Our method is able to identify a very small number of important SNPs that can determine the populations of individuals.

Interactions Dominate the Dynamics of Visual Cognition

Science.gov (United States)

Stephen, Damian G.; Mirman, Daniel

2010-01-01

Many cognitive theories have described behavior as the summation of independent contributions from separate components. Contrasting views have emphasized the importance of multiplicative interactions and emergent structure. We describe a statistical approach to distinguishing additive and multiplicative processes and apply it to the dynamics of eye movements during classic visual cognitive tasks. The results reveal interaction-dominant dynamics in eye movements in each of the three tasks, and that fine-grained eye movements are modulated by task constraints. These findings reveal the interactive nature of cognitive processing and are consistent with theories that view cognition as an emergent property of processes that are broadly distributed over many scales of space and time rather than a componential assembly line. PMID:20070957

Interaction between numbers and size during visual search

NARCIS (Netherlands)

Krause, F.; Bekkering, H.; Pratt, J.; Lindemann, O.

2017-01-01

The current study investigates an interaction between numbers and physical size (i.e. size congruity) in visual search. In three experiments, participants had to detect a physically large (or small) target item among physically small (or large) distractors in a search task comprising single-digit

SNP-SNP interactions in breast cancer susceptibility

Directory of Open Access Journals (Sweden)

Wang Yuanyuan

2006-05-01

Full Text Available Abstract Background Breast cancer predisposition genes identified to date (e.g., BRCA1 and BRCA2 are responsible for less than 5% of all breast cancer cases. Many studies have shown that the cancer risks associated with individual commonly occurring single nucleotide polymorphisms (SNPs are incremental. However, polygenic models suggest that multiple commonly occurring low to modestly penetrant SNPs of cancer related genes might have a greater effect on a disease when considered in combination. Methods In an attempt to identify the breast cancer risk conferred by SNP interactions, we have studied 19 SNPs from genes involved in major cancer related pathways. All SNPs were genotyped by TaqMan 5'nuclease assay. The association between the case-control status and each individual SNP, measured by the odds ratio and its corresponding 95% confidence interval, was estimated using unconditional logistic regression models. At the second stage, two-way interactions were investigated using multivariate logistic models. The robustness of the interactions, which were observed among SNPs with stronger functional evidence, was assessed using a bootstrap approach, and correction for multiple testing based on the false discovery rate (FDR principle. Results None of these SNPs contributed to breast cancer risk individually. However, we have demonstrated evidence for gene-gene (SNP-SNP interaction among these SNPs, which were associated with increased breast cancer risk. Our study suggests cross talk between the SNPs of the DNA repair and immune system (XPD-[Lys751Gln] and IL10-[G(-1082A], cell cycle and estrogen metabolism (CCND1-[Pro241Pro] and COMT-[Met108/158Val], cell cycle and DNA repair (BARD1-[Pro24Ser] and XPD-[Lys751Gln], and within carcinogen metabolism (GSTP1-[Ile105Val] and COMT-[Met108/158Val] pathways. Conclusion The importance of these pathways and their communication in breast cancer predisposition has been emphasized previously, but their

SNP-SNP interactions in breast cancer susceptibility

International Nuclear Information System (INIS)

Onay, Venüs Ümmiye; Ozcelik, Hilmi; Briollais, Laurent; Knight, Julia A; Shi, Ellen; Wang, Yuanyuan; Wells, Sean; Li, Hong; Rajendram, Isaac; Andrulis, Irene L

2006-01-01

Breast cancer predisposition genes identified to date (e.g., BRCA1 and BRCA2) are responsible for less than 5% of all breast cancer cases. Many studies have shown that the cancer risks associated with individual commonly occurring single nucleotide polymorphisms (SNPs) are incremental. However, polygenic models suggest that multiple commonly occurring low to modestly penetrant SNPs of cancer related genes might have a greater effect on a disease when considered in combination. In an attempt to identify the breast cancer risk conferred by SNP interactions, we have studied 19 SNPs from genes involved in major cancer related pathways. All SNPs were genotyped by TaqMan 5'nuclease assay. The association between the case-control status and each individual SNP, measured by the odds ratio and its corresponding 95% confidence interval, was estimated using unconditional logistic regression models. At the second stage, two-way interactions were investigated using multivariate logistic models. The robustness of the interactions, which were observed among SNPs with stronger functional evidence, was assessed using a bootstrap approach, and correction for multiple testing based on the false discovery rate (FDR) principle. None of these SNPs contributed to breast cancer risk individually. However, we have demonstrated evidence for gene-gene (SNP-SNP) interaction among these SNPs, which were associated with increased breast cancer risk. Our study suggests cross talk between the SNPs of the DNA repair and immune system (XPD-[Lys751Gln] and IL10-[G(-1082)A]), cell cycle and estrogen metabolism (CCND1-[Pro241Pro] and COMT-[Met108/158Val]), cell cycle and DNA repair (BARD1-[Pro24Ser] and XPD-[Lys751Gln]), and within carcinogen metabolism (GSTP1-[Ile105Val] and COMT-[Met108/158Val]) pathways. The importance of these pathways and their communication in breast cancer predisposition has been emphasized previously, but their biological interactions through SNPs have not been described

CellMap visualizes protein-protein interactions and subcellular localization

Science.gov (United States)

Dallago, Christian; Goldberg, Tatyana; Andrade-Navarro, Miguel Angel; Alanis-Lobato, Gregorio; Rost, Burkhard

2018-01-01

Many tools visualize protein-protein interaction (PPI) networks. The tool introduced here, CellMap, adds one crucial novelty by visualizing PPI networks in the context of subcellular localization, i.e. the location in the cell or cellular component in which a PPI happens. Users can upload images of cells and define areas of interest against which PPIs for selected proteins are displayed (by default on a cartoon of a cell). Annotations of localization are provided by the user or through our in-house database. The visualizer and server are written in JavaScript, making CellMap easy to customize and to extend by researchers and developers. PMID:29497493

Interactions between visual working memory and visual attention

NARCIS (Netherlands)

Olivers, C.N.L.

2008-01-01

Visual attention is the collection of mechanisms by which relevant visual information is selected, and irrelevant visual information is ignored. Visual working memory is the mechanism by which relevant visual information is retained, and irrelevant information is suppressed. In addition to this

Stethoscope: A platform for interactive visual analysis of query execution plans

NARCIS (Netherlands)

M.M. Gawade (Mrunal); M.L. Kersten (Martin)

2012-01-01

textabstractSearching for the performance bottleneck in an execution trace is an error prone and time consuming activity. Existing tools oer some comfort by providing a visual representation of trace for analysis. In this paper we present the Stethoscope, an interactive visual tool to inspect and

Stethoscope: a platform for interactive visual analysis of query execution plans

NARCIS (Netherlands)

Gawade, M.; Kersten, M.

2012-01-01

Searching for the performance bottleneck in an execution trace is an error prone and time consuming activity. Existing tools offer some comfort by providing a visual representation of trace for analysis. In this paper we present the Stethoscope, an interactive visual tool to inspect and ana- lyze

Visual functions and interocular interactions in anisometropic children with and without amblyopia.

Science.gov (United States)

Lai, Xin Jie; Alexander, Jack; He, Mingguang; Yang, Zhikuan; Suttle, Catherine

2011-08-29

In uncorrected anisometropia, protracted dichoptic stimulation may result in interocular inhibition, which may be a contributing factor in amblyopia development. This study investigates the relationship between interocular interactions and anisometropic amblyopia. Three visual functions (low-contrast acuity, contrast sensitivity, and alignment sensitivity) were measured in the nondominant eye of 44 children aged 5 to 11 years: 10 with normal vision, 17 with anisometropia without amblyopia, and 17 with anisometropic amblyopia. The dominant eye was either fully or partially occluded. The difference in nondominant eye visual function between the full-and partial-occlusion conditions was termed the interaction index. The index of each visual function was compared between subject groups. A higher index indicates stronger inhibition of nondominant eye function with partial occlusion of the dominant eye. Amblyopic children had 6 months of therapy (refractive correction and occlusion), and the reduction in interocular difference in high-contrast acuity was regarded as the treatment outcome. The relationships of the interaction index with the degree of anisometropia, the severity of amblyopia, and the treatment outcomes were examined. The acuity interaction index was significantly higher in anisometropic children with amblyopia than in those without (P = 0.003). It was positively correlated with the degree of anisometropia (r(s) = 0.35, P = 0.042) and the amblyopic treatment outcomes (r(s) = 0.54, P = 0.038). No such difference or association was found between the contrast sensitivity or alignment sensitivity interaction index and anisometropic amblyopia. Interocular interactions are associated with amblyopia, the degree of anisometropia, and amblyopia treatment outcomes, but these associations are visual function dependent.

Supporting Sensemaking of Complex Objects with Visualizations: Visibility and Complementarity of Interactions

Directory of Open Access Journals (Sweden)

Kamran Sedig

2016-10-01

Full Text Available Making sense of complex objects is difficult, and typically requires the use of external representations to support cognitive demands while reasoning about the objects. Visualizations are one type of external representation that can be used to support sensemaking activities. In this paper, we investigate the role of two design strategies in making the interactive features of visualizations more supportive of users’ exploratory needs when trying to make sense of complex objects. These two strategies are visibility and complementarity of interactions. We employ a theoretical framework concerned with human–information interaction and complex cognitive activities to inform, contextualize, and interpret the effects of the design strategies. The two strategies are incorporated in the design of Polyvise, a visualization tool that supports making sense of complex four-dimensional geometric objects. A mixed-methods study was conducted to evaluate the design strategies and the overall usability of Polyvise. We report the findings of the study, discuss some implications for the design of visualization tools that support sensemaking of complex objects, and propose five design guidelines. We anticipate that our results are transferrable to other contexts, and that these two design strategies can be used broadly in visualization tools intended to support activities with complex objects and information spaces.

Interactive Processing and Visualization of Image Data forBiomedical and Life Science Applications

Energy Technology Data Exchange (ETDEWEB)

Staadt, Oliver G.; Natarjan, Vijay; Weber, Gunther H.; Wiley,David F.; Hamann, Bernd

2007-02-01

Background: Applications in biomedical science and life science produce large data sets using increasingly powerful imaging devices and computer simulations. It is becoming increasingly difficult for scientists to explore and analyze these data using traditional tools. Interactive data processing and visualization tools can support scientists to overcome these limitations. Results: We show that new data processing tools and visualization systems can be used successfully in biomedical and life science applications. We present an adaptive high-resolution display system suitable for biomedical image data, algorithms for analyzing and visualization protein surfaces and retinal optical coherence tomography data, and visualization tools for 3D gene expression data. Conclusion: We demonstrated that interactive processing and visualization methods and systems can support scientists in a variety of biomedical and life science application areas concerned with massive data analysis.

Java 3D Interactive Visualization for Astrophysics

Science.gov (United States)

Chae, K.; Edirisinghe, D.; Lingerfelt, E. J.; Guidry, M. W.

2003-05-01

We are developing a series of interactive 3D visualization tools that employ the Java 3D API. We have applied this approach initially to a simple 3-dimensional galaxy collision model (restricted 3-body approximation), with quite satisfactory results. Running either as an applet under Web browser control, or as a Java standalone application, this program permits real-time zooming, panning, and 3-dimensional rotation of the galaxy collision simulation under user mouse and keyboard control. We shall also discuss applications of this technology to 3-dimensional visualization for other problems of astrophysical interest such as neutron star mergers and the time evolution of element/energy production networks in X-ray bursts. *Managed by UT-Battelle, LLC, for the U.S. Department of Energy under contract DE-AC05-00OR22725.

Does Visualization Matter? The Role of Interactive Data Visualization to Make Sense of Information

Directory of Open Access Journals (Sweden)

Arif Perdana

2018-05-01

Full Text Available As part of business analytics (BA technologies, reporting and visualization play essential roles in mitigating users’ limitations (i.e., being inexperienced, having limited knowledge, and relying on simplified information. Reporting and visualization can potentially enhance users’ sense-making, thus permitting them to focus more on the information’s message rather than numerical analysis. To better understand the role of reporting and visualization in a contextualized environment, we investigate using interactive data visualization (IDV within accounting. We aim to understand whether IDV can help enhance non-professional investors’ ability to make sense of foundational financial statement analyses. This study conducted an experiment using a sample of 324 nonprofessional investors. Our findings indicate that nonprofessional investors who use IDV are more heuristically adept than non-professional investors who use non-IDV. These findings enrich the theoretical understanding of business analytics’ use in accounting decision making. The results of this study also suggest several practical courses of action, such as promoting wider use of IDV and making affordable IDV more broadly available, particularly for non-professional investors.

Cross-modal interaction between visual and olfactory learning in Apis cerana.

Science.gov (United States)

Zhang, Li-Zhen; Zhang, Shao-Wu; Wang, Zi-Long; Yan, Wei-Yu; Zeng, Zhi-Jiang

2014-10-01

The power of the small honeybee brain carrying out behavioral and cognitive tasks has been shown repeatedly to be highly impressive. The present study investigates, for the first time, the cross-modal interaction between visual and olfactory learning in Apis cerana. To explore the role and molecular mechanisms of cross-modal learning in A. cerana, the honeybees were trained and tested in a modified Y-maze with seven visual and five olfactory stimulus, where a robust visual threshold for black/white grating (period of 2.8°-3.8°) and relatively olfactory threshold (concentration of 50-25%) was obtained. Meanwhile, the expression levels of five genes (AcCREB, Acdop1, Acdop2, Acdop3, Actyr1) related to learning and memory were analyzed under different training conditions by real-time RT-PCR. The experimental results indicate that A. cerana could exhibit cross-modal interactions between visual and olfactory learning by reducing the threshold level of the conditioning stimuli, and that these genes may play important roles in the learning process of honeybees.

Color surface-flow visualization of fin-generated shock wave boundary-layer interactions

Science.gov (United States)

Lu, F. K.; Settles, G. S.

1990-03-01

Kerosene-lampblack mixtures with addition of a ground colored chalk were used in an experiment on visualizing surface flows of swept shock boundary-layer interactions. The results show that contrasting colors intensify the visualization of different regions of the interaction surface, and help the eye in following the fine streaks to locate the upstream influence. The study confirms observations of the separation occurring at shock strength below accepted values. The superiority of the reported technique over the previous monochrome technique is demonstrated.

Interactions between attention, context and learning in primary visual cortex.

Science.gov (United States)

Gilbert, C; Ito, M; Kapadia, M; Westheimer, G

2000-01-01

Attention in early visual processing engages the higher order, context dependent properties of neurons. Even at the earliest stages of visual cortical processing neurons play a role in intermediate level vision - contour integration and surface segmentation. The contextual influences mediating this process may be derived from long range connections within primary visual cortex (V1). These influences are subject to perceptual learning, and are strongly modulated by visuospatial attention, which is itself a learning dependent process. The attentional influences may involve interactions between feedback and horizontal connections in V1. V1 is therefore a dynamic and active processor, subject to top-down influences.

Quick, “Imputation-free” meta-analysis with proxy-SNPs

Directory of Open Access Journals (Sweden)

Meesters Christian

2012-09-01

Full Text Available Abstract Background Meta-analysis (MA is widely used to pool genome-wide association studies (GWASes in order to a increase the power to detect strong or weak genotype effects or b as a result verification method. As a consequence of differing SNP panels among genotyping chips, imputation is the method of choice within GWAS consortia to avoid losing too many SNPs in a MA. YAMAS (Yet Another Meta Analysis Software, however, enables cross-GWAS conclusions prior to finished and polished imputation runs, which eventually are time-consuming. Results Here we present a fast method to avoid forfeiting SNPs present in only a subset of studies, without relying on imputation. This is accomplished by using reference linkage disequilibrium data from 1,000 Genomes/HapMap projects to find proxy-SNPs together with in-phase alleles for SNPs missing in at least one study. MA is conducted by combining association effect estimates of a SNP and those of its proxy-SNPs. Our algorithm is implemented in the MA software YAMAS. Association results from GWAS analysis applications can be used as input files for MA, tremendously speeding up MA compared to the conventional imputation approach. We show that our proxy algorithm is well-powered and yields valuable ad hoc results, possibly providing an incentive for follow-up studies. We propose our method as a quick screening step prior to imputation-based MA, as well as an additional main approach for studies without available reference data matching the ethnicities of study participants. As a proof of principle, we analyzed six dbGaP Type II Diabetes GWAS and found that the proxy algorithm clearly outperforms naïve MA on the p-value level: for 17 out of 23 we observe an improvement on the p-value level by a factor of more than two, and a maximum improvement by a factor of 2127. Conclusions YAMAS is an efficient and fast meta-analysis program which offers various methods, including conventional MA as well as inserting proxy-SNPs

Auditory and visual interactions between the superior and inferior colliculi in the ferret.

Science.gov (United States)

Stitt, Iain; Galindo-Leon, Edgar; Pieper, Florian; Hollensteiner, Karl J; Engler, Gerhard; Engel, Andreas K

2015-05-01

The integration of visual and auditory spatial information is important for building an accurate perception of the external world, but the fundamental mechanisms governing such audiovisual interaction have only partially been resolved. The earliest interface between auditory and visual processing pathways is in the midbrain, where the superior (SC) and inferior colliculi (IC) are reciprocally connected in an audiovisual loop. Here, we investigate the mechanisms of audiovisual interaction in the midbrain by recording neural signals from the SC and IC simultaneously in anesthetized ferrets. Visual stimuli reliably produced band-limited phase locking of IC local field potentials (LFPs) in two distinct frequency bands: 6-10 and 15-30 Hz. These visual LFP responses co-localized with robust auditory responses that were characteristic of the IC. Imaginary coherence analysis confirmed that visual responses in the IC were not volume-conducted signals from the neighboring SC. Visual responses in the IC occurred later than retinally driven superficial SC layers and earlier than deep SC layers that receive indirect visual inputs, suggesting that retinal inputs do not drive visually evoked responses in the IC. In addition, SC and IC recording sites with overlapping visual spatial receptive fields displayed stronger functional connectivity than sites with separate receptive fields, indicating that visual spatial maps are aligned across both midbrain structures. Reciprocal coupling between the IC and SC therefore probably serves the dynamic integration of visual and auditory representations of space. © 2015 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.

iTTVis: Interactive Visualization of Table Tennis Data.

Science.gov (United States)

Wu, Yingcai; Lan, Ji; Shu, Xinhuan; Ji, Chenyang; Zhao, Kejian; Wang, Jiachen; Zhang, Hui

2018-01-01

The rapid development of information technology paved the way for the recording of fine-grained data, such as stroke techniques and stroke placements, during a table tennis match. This data recording creates opportunities to analyze and evaluate matches from new perspectives. Nevertheless, the increasingly complex data poses a significant challenge to make sense of and gain insights into. Analysts usually employ tedious and cumbersome methods which are limited to watching videos and reading statistical tables. However, existing sports visualization methods cannot be applied to visualizing table tennis competitions due to different competition rules and particular data attributes. In this work, we collaborate with data analysts to understand and characterize the sophisticated domain problem of analysis of table tennis data. We propose iTTVis, a novel interactive table tennis visualization system, which to our knowledge, is the first visual analysis system for analyzing and exploring table tennis data. iTTVis provides a holistic visualization of an entire match from three main perspectives, namely, time-oriented, statistical, and tactical analyses. The proposed system with several well-coordinated views not only supports correlation identification through statistics and pattern detection of tactics with a score timeline but also allows cross analysis to gain insights. Data analysts have obtained several new insights by using iTTVis. The effectiveness and usability of the proposed system are demonstrated with four case studies.

The role of 3-D interactive visualization in blind surveys of H I in galaxies

Science.gov (United States)

Punzo, D.; van der Hulst, J. M.; Roerdink, J. B. T. M.; Oosterloo, T. A.; Ramatsoku, M.; Verheijen, M. A. W.

2015-09-01

Upcoming H I surveys will deliver large datasets, and automated processing using the full 3-D information (two positional dimensions and one spectral dimension) to find and characterize H I objects is imperative. In this context, visualization is an essential tool for enabling qualitative and quantitative human control on an automated source finding and analysis pipeline. We discuss how Visual Analytics, the combination of automated data processing and human reasoning, creativity and intuition, supported by interactive visualization, enables flexible and fast interaction with the 3-D data, helping the astronomer to deal with the analysis of complex sources. 3-D visualization, coupled to modeling, provides additional capabilities helping the discovery and analysis of subtle structures in the 3-D domain. The requirements for a fully interactive visualization tool are: coupled 1-D/2-D/3-D visualization, quantitative and comparative capabilities, combined with supervised semi-automated analysis. Moreover, the source code must have the following characteristics for enabling collaborative work: open, modular, well documented, and well maintained. We review four state of-the-art, 3-D visualization packages assessing their capabilities and feasibility for use in the case of 3-D astronomical data.

A novel method for in silico identification of regulatory SNPs in human genome.

Science.gov (United States)

Li, Rong; Zhong, Dexing; Liu, Ruiling; Lv, Hongqiang; Zhang, Xinman; Liu, Jun; Han, Jiuqiang

2017-02-21

Regulatory single nucleotide polymorphisms (rSNPs), kind of functional noncoding genetic variants, can affect gene expression in a regulatory way, and they are thought to be associated with increased susceptibilities to complex diseases. Here a novel computational approach to identify potential rSNPs is presented. Different from most other rSNPs finding methods which based on hypothesis that SNPs causing large allele-specific changes in transcription factor binding affinities are more likely to play regulatory functions, we use a set of documented experimentally verified rSNPs and nonfunctional background SNPs to train classifiers, so the discriminating features are found. To characterize variants, an extensive range of characteristics, such as sequence context, DNA structure and evolutionary conservation etc. are analyzed. Support vector machine is adopted to build the classifier model together with an ensemble method to deal with unbalanced data. 10-fold cross-validation result shows that our method can achieve accuracy with sensitivity of ~78% and specificity of ~82%. Furthermore, our method performances better than some other algorithms based on aforementioned hypothesis in handling false positives. The original data and the source matlab codes involved are available at https://sourceforge.net/projects/rsnppredict/. Copyright © 2016 Elsevier Ltd. All rights reserved.

Independent Interactive Inquiry-Based Learning Modules Using Audio-Visual Instruction In Statistics

OpenAIRE

McDaniel, Scott N.; Green, Lisa

2012-01-01

Simulations can make complex ideas easier for students to visualize and understand. It has been shown that guidance in the use of these simulations enhances students’ learning. This paper describes the implementation and evaluation of the Independent Interactive Inquiry-based (I3) Learning Modules, which use existing open-source Java applets, combined with audio-visual instruction. Students are guided to discover and visualize important concepts in post-calculus and algebra-based courses in p...

Using the clustered circular layout as an informative method for visualizing protein-protein interaction networks.

Science.gov (United States)

Fung, David C Y; Wilkins, Marc R; Hart, David; Hong, Seok-Hee

2010-07-01

The force-directed layout is commonly used in computer-generated visualizations of protein-protein interaction networks. While it is good for providing a visual outline of the protein complexes and their interactions, it has two limitations when used as a visual analysis method. The first is poor reproducibility. Repeated running of the algorithm does not necessarily generate the same layout, therefore, demanding cognitive readaptation on the investigator's part. The second limitation is that it does not explicitly display complementary biological information, e.g. Gene Ontology, other than the protein names or gene symbols. Here, we present an alternative layout called the clustered circular layout. Using the human DNA replication protein-protein interaction network as a case study, we compared the two network layouts for their merits and limitations in supporting visual analysis.

Efficient analysis using custom interactive visualization tools at a Superfund site

International Nuclear Information System (INIS)

Williams, G.; Durham, L.

1992-01-01

Custom visualization analysis programs were developed and used to analyze contaminant transport calculations from a three-dimensional numerical groundwater flow model developed for a Department of Energy Superfund site. The site hydrogeology, which is highly heterogenous, includes both fractured limestone and dolomite and alluvium deposits. Three-dimensional interactive visualization techniques were used to understand and analyze the three-dimensional, double-porosity modeling results. A graphical object oriented programming environment was applied to efficiently develop custom visualization programs in a coarse-grained data structure language. Comparisons were made, using the results from the three-dimensional, finite-difference model, between traditional two-dimensional analyses (contour and vector plots) and interactive three-dimensional techniques. Subjective comparison areas include the accuracy of analysis, the ability to understand the results of three-dimensional contaminant transport simulation, and the capability to transmit the results of the analysis to the project management. In addition, a quantitative comparison was made on the time required to develop a thorough analysis of the modeling results. The conclusions from the comparative study showed that the visualization analysis provided an increased awareness of the contaminant transport mechanisms, provided new insights into contaminant migration, and resulted in a significant time savings

Efficient analysis using custom interactive visualization tools at a Superfund site

Energy Technology Data Exchange (ETDEWEB)

Williams, G. [Northwestern Univ., Evanston, IL (United States); Durham, L. [Argonne National Lab., IL (United States)

1992-12-01

Custom visualization analysis programs were developed and used to analyze contaminant transport calculations from a three-dimensional numerical groundwater flow model developed for a Department of Energy Superfund site. The site hydrogeology, which is highly heterogenous, includes both fractured limestone and dolomite and alluvium deposits. Three-dimensional interactive visualization techniques were used to understand and analyze the three-dimensional, double-porosity modeling results. A graphical object oriented programming environment was applied to efficiently develop custom visualization programs in a coarse-grained data structure language. Comparisons were made, using the results from the three-dimensional, finite-difference model, between traditional two-dimensional analyses (contour and vector plots) and interactive three-dimensional techniques. Subjective comparison areas include the accuracy of analysis, the ability to understand the results of three-dimensional contaminant transport simulation, and the capability to transmit the results of the analysis to the project management. In addition, a quantitative comparison was made on the time required to develop a thorough analysis of the modeling results. The conclusions from the comparative study showed that the visualization analysis provided an increased awareness of the contaminant transport mechanisms, provided new insights into contaminant migration, and resulted in a significant time savings.

Interactive visual analysis of nuclear data with ZVView

International Nuclear Information System (INIS)

Zerkin, Viktor

2002-01-01

This paper describes the cross section graphics software package ZVVIEW that was developed for the evaluators to perform efficient interactive visual analysis of experimental and theoretical nuclear data. ZVVIEW is a very powerful and complete package that simplifies the presentation of nuclear cross section data. A CD-ROM version of this computer package is available from the IAEA-NDS on request. (a.n.)

Interactive Scientific Visualization in 3D Virtual Reality Model

Directory of Open Access Journals (Sweden)

Filip Popovski

2016-11-01

Full Text Available Scientific visualization in technology of virtual reality is a graphical representation of virtual environment in the form of images or animation that can be displayed with various devices such as Head Mounted Display (HMD or monitors that can view threedimensional world. Research in real time is a desirable capability for scientific visualization and virtual reality in which we are immersed and make the research process easier. In this scientific paper the interaction between the user and objects in the virtual environment аrе in real time which gives a sense of reality to the user. Also, Quest3D VR software package is used and the movement of the user through the virtual environment, the impossibility to walk through solid objects, methods for grabbing objects and their displacement are programmed and all interactions between them will be possible. At the end some critical analysis were made on all of these techniques on various computer systems and excellent results were obtained.

Meta-analysis of SNPs involved in variance heterogeneity using Levene's test for equal variances

Science.gov (United States)

Deng, Wei Q; Asma, Senay; Paré, Guillaume

2014-01-01

Meta-analysis is a commonly used approach to increase the sample size for genome-wide association searches when individual studies are otherwise underpowered. Here, we present a meta-analysis procedure to estimate the heterogeneity of the quantitative trait variance attributable to genetic variants using Levene's test without needing to exchange individual-level data. The meta-analysis of Levene's test offers the opportunity to combine the considerable sample size of a genome-wide meta-analysis to identify the genetic basis of phenotypic variability and to prioritize single-nucleotide polymorphisms (SNPs) for gene–gene and gene–environment interactions. The use of Levene's test has several advantages, including robustness to departure from the normality assumption, freedom from the influence of the main effects of SNPs, and no assumption of an additive genetic model. We conducted a meta-analysis of the log-transformed body mass index of 5892 individuals and identified a variant with a highly suggestive Levene's test P-value of 4.28E-06 near the NEGR1 locus known to be associated with extreme obesity. PMID:23921533

MiRNA-Related SNPs and Risk of Esophageal Adenocarcinoma and Barrett's Esophagus: Post Genome-Wide Association Analysis in the BEACON Consortium.

Directory of Open Access Journals (Sweden)

Matthew F Buas

Full Text Available Incidence of esophageal adenocarcinoma (EA has increased substantially in recent decades. Multiple risk factors have been identified for EA and its precursor, Barrett's esophagus (BE, such as reflux, European ancestry, male sex, obesity, and tobacco smoking, and several germline genetic variants were recently associated with disease risk. Using data from the Barrett's and Esophageal Adenocarcinoma Consortium (BEACON genome-wide association study (GWAS of 2,515 EA cases, 3,295 BE cases, and 3,207 controls, we examined single nucleotide polymorphisms (SNPs that potentially affect the biogenesis or biological activity of microRNAs (miRNAs, small non-coding RNAs implicated in post-transcriptional gene regulation, and deregulated in many cancers, including EA. Polymorphisms in three classes of genes were examined for association with risk of EA or BE: miRNA biogenesis genes (157 SNPs, 21 genes; miRNA gene loci (234 SNPs, 210 genes; and miRNA-targeted mRNAs (177 SNPs, 158 genes. Nominal associations (P0.50, and we did not find evidence for interactions between variants analyzed and two risk factors for EA/BE (smoking and obesity. This analysis provides the most extensive assessment to date of miRNA-related SNPs in relation to risk of EA and BE. While common genetic variants within components of the miRNA biogenesis core pathway appear unlikely to modulate susceptibility to EA or BE, further studies may be warranted to examine potential associations between unassessed variants in miRNA genes and targets with disease risk.

SCREENING LOW FREQUENCY SNPS FROM GENOME WIDE ASSOCIATION STUDY REVEALS A NEW RISK ALLELE FOR PROGRESSION TO AIDS

Science.gov (United States)

Le Clerc, Sigrid; Coulonges, Cédric; Delaneau, Olivier; Van Manen, Danielle; Herbeck, Joshua T.; Limou, Sophie; An, Ping; Martinson, Jeremy J.; Spadoni, Jean-Louis; Therwath, Amu; Veldink, Jan H.; van den Berg, Leonard H.; Taing, Lieng; Labib, Taoufik; Mellak, Safa; Montes, Matthieu; Delfraissy, Jean-François; Schächter, François; Winkler, Cheryl; Froguel, Philippe; Mullins, James I.; Schuitemaker, Hanneke; Zagury, Jean-François

2011-01-01

Background Seven genome-wide association studies (GWAS) have been published in AIDS and only associations in the HLA region on chromosome 6 and CXCR6 have passed genome-wide significance. Methods We reanalyzed the data from three previously published GWAS, targeting specifically low frequency SNPs (minor allele frequency (MAF)<5%). Two groups composed of 365 slow progressors (SP) and 147 rapid progressors (RP) from Europe and the US were compared with a control group of 1394 seronegative individuals using Eigenstrat corrections. Results Of the 8584 SNPs with MAF<5% in cases and controls (Bonferroni threshold=5.8×10−6), four SNPs showed statistical evidence of association with the SP phenotype. The best result was for HCP5 rs2395029 (p=8.54×10−15, OR=3.41) in the HLA locus, in partial linkage disequilibrium with two additional chromosome 6 associations in C6orf48 (p=3.03×10−10, OR=2.9) and NOTCH4 (9.08×10−07, OR=2.32). The fourth association corresponded to rs2072255 located in RICH2 (p=3.30×10−06, OR=0.43) in chromosome 17. Using HCP5 rs2395029 as a covariate, the C6orf48 and NOTCH4 signals disappeared, but the RICH2 signal still remained significant. Conclusion Besides the already known chromosome 6 associations, the analysis of low frequency SNPs brought up a new association in the RICH2 gene. Interestingly, RICH2 interacts with BST-2 known to be a major restriction factor for HIV-1 infection. Our study has thus identified a new candidate gene for AIDS molecular etiology and confirms the interest of singling out low frequency SNPs in order to exploit GWAS data. PMID:21107268

Genome-wide screen for universal individual identification SNPs based on the HapMap and 1000 Genomes databases.

Science.gov (United States)

Huang, Erwen; Liu, Changhui; Zheng, Jingjing; Han, Xiaolong; Du, Weian; Huang, Yuanjian; Li, Chengshi; Wang, Xiaoguang; Tong, Dayue; Ou, Xueling; Sun, Hongyu; Zeng, Zhaoshu; Liu, Chao

2018-04-03

Differences among SNP panels for individual identification in SNP-selecting and populations led to few common SNPs, compromising their universal applicability. To screen all universal SNPs, we performed a genome-wide SNP mining in multiple populations based on HapMap and 1000Genomes databases. SNPs with high minor allele frequencies (MAF) in 37 populations were selected. With MAF from ≥0.35 to ≥0.43, the number of selected SNPs decreased from 2769 to 0. A total of 117 SNPs with MAF ≥0.39 have no linkage disequilibrium with each other in every population. For 116 of the 117 SNPs, cumulative match probability (CMP) ranged from 2.01 × 10-48 to 1.93 × 10-50 and cumulative exclusion probability (CEP) ranged from 0.9999999996653 to 0.9999999999945. In 134 tested Han samples, 110 of the 117 SNPs remained within high MAF and conformed to Hardy-Weinberg equilibrium, with CMP = 4.70 × 10-47 and CEP = 0.999999999862. By analyzing the same number of autosomal SNPs as in the HID-Ion AmpliSeq Identity Panel, i.e. 90 randomized out of the 110 SNPs, our panel yielded preferable CMP and CEP. Taken together, the 110-SNPs panel is advantageous for forensic test, and this study provided plenty of highly informative SNPs for compiling final universal panels.

Portability of tag SNPs across isolated population groups: an example from India.

Science.gov (United States)

Sarkar Roy, N; Farheen, S; Roy, N; Sengupta, S; Majumder, P P

2008-01-01

Isolated population groups are useful in conducting association studies of complex diseases to avoid various pitfalls, including those arising from population stratification. Since DNA resequencing is expensive, it is recommended that genotyping be carried out at tagSNP (tSNP) loci. For this, tSNPs identified in one isolated population need to be used in another. Unless tSNPs are highly portable across populations this strategy may result in loss of information in association studies. We examined the issue of tSNP portability by sampling individuals from 10 isolated ethnic groups from India. We generated DNA resequencing data pertaining to 3 genomic regions and identified tSNPs in each population. We defined an index of tSNP portability and showed that portability is low across isolated Indian ethnic groups. The extent of portability did not significantly correlate with genetic similarity among the populations studied here. We also analyzed our data with sequence data from individuals of African and European descent. Our results indicated that it may be necessary to carry out resequencing in a small number of individuals to discover SNPs and identify tSNPs in the specific isolated population in which a disease association study is to be conducted.

Interactive visualization to advance earthquake simulation

Science.gov (United States)

Kellogg, L.H.; Bawden, G.W.; Bernardin, T.; Billen, M.; Cowgill, E.; Hamann, B.; Jadamec, M.; Kreylos, O.; Staadt, O.; Sumner, D.

2008-01-01

The geological sciences are challenged to manage and interpret increasing volumes of data as observations and simulations increase in size and complexity. For example, simulations of earthquake-related processes typically generate complex, time-varying data sets in two or more dimensions. To facilitate interpretation and analysis of these data sets, evaluate the underlying models, and to drive future calculations, we have developed methods of interactive visualization with a special focus on using immersive virtual reality (VR) environments to interact with models of Earth's surface and interior. Virtual mapping tools allow virtual "field studies" in inaccessible regions. Interactive tools allow us to manipulate shapes in order to construct models of geological features for geodynamic models, while feature extraction tools support quantitative measurement of structures that emerge from numerical simulation or field observations, thereby enabling us to improve our interpretation of the dynamical processes that drive earthquakes. VR has traditionally been used primarily as a presentation tool, albeit with active navigation through data. Reaping the full intellectual benefits of immersive VR as a tool for scientific analysis requires building on the method's strengths, that is, using both 3D perception and interaction with observed or simulated data. This approach also takes advantage of the specialized skills of geological scientists who are trained to interpret, the often limited, geological and geophysical data available from field observations. ?? Birkhaueser 2008.

Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.

Directory of Open Access Journals (Sweden)

Clive J Hoggart

2008-07-01

Full Text Available Testing one SNP at a time does not fully realise the potential of genome-wide association studies to identify multiple causal variants, which is a plausible scenario for many complex diseases. We show that simultaneous analysis of the entire set of SNPs from a genome-wide study to identify the subset that best predicts disease outcome is now feasible, thanks to developments in stochastic search methods. We used a Bayesian-inspired penalised maximum likelihood approach in which every SNP can be considered for additive, dominant, and recessive contributions to disease risk. Posterior mode estimates were obtained for regression coefficients that were each assigned a prior with a sharp mode at zero. A non-zero coefficient estimate was interpreted as corresponding to a significant SNP. We investigated two prior distributions and show that the normal-exponential-gamma prior leads to improved SNP selection in comparison with single-SNP tests. We also derived an explicit approximation for type-I error that avoids the need to use permutation procedures. As well as genome-wide analyses, our method is well-suited to fine mapping with very dense SNP sets obtained from re-sequencing and/or imputation. It can accommodate quantitative as well as case-control phenotypes, covariate adjustment, and can be extended to search for interactions. Here, we demonstrate the power and empirical type-I error of our approach using simulated case-control data sets of up to 500 K SNPs, a real genome-wide data set of 300 K SNPs, and a sequence-based dataset, each of which can be analysed in a few hours on a desktop workstation.

Visualization of magnetic dipolar interaction based on scanning transmission X-ray microscopy

International Nuclear Information System (INIS)

Ohtori, Hiroyuki; Iwano, Kaoru; Takeichi, Yasuo; Ono, Kanta; Mitsumata, Chiharu; Yano, Masao; Kato, Akira; Miyamoto, Noritaka; Shoji, Tetsuya; Manabe, Akira

2014-01-01

Using scanning transmission X-ray microscopy (STXM), in this report we visualized the magnetic dipolar interactions in nanocrystalline Nd-Fe-B magnets and imaged their magnetization distributions at various applied fields. We calculated the magnetic dipolar interaction by analyzing the interaction between the magnetization at each point and those at the other points on the STXM image.

Targeted Metabolic Engineering Guided by Computational Analysis of Single-Nucleotide Polymorphisms (SNPs)

DEFF Research Database (Denmark)

Udatha, D B R K Gupta; Rasmussen, Simon; Sicheritz-Pontén, Thomas

2013-01-01

The non-synonymous SNPs, the so-called non-silent SNPs, which are single-nucleotide variations in the coding regions that give "birth" to amino acid mutations, are often involved in the modulation of protein function. Understanding the effect of individual amino acid mutations on a protein...

Modeling disease risk through analysis of physical interactions between genetic variants within chromatin regulatory circuitry.

Science.gov (United States)

Corradin, Olivia; Cohen, Andrea J; Luppino, Jennifer M; Bayles, Ian M; Schumacher, Fredrick R; Scacheri, Peter C

2016-11-01

SNPs associated with disease susceptibility often reside in enhancer clusters, or super-enhancers. Constituents of these enhancer clusters cooperate to regulate target genes and often extend beyond the linkage disequilibrium (LD) blocks containing risk SNPs identified in genome-wide association studies (GWAS). We identified 'outside variants', defined as SNPs in weak LD with GWAS risk SNPs that physically interact with risk SNPs as part of a target gene's regulatory circuitry. These outside variants further explain variation in target gene expression beyond that explained by GWAS-associated SNPs. Additionally, the clinical risk associated with GWAS SNPs is considerably modified by the genotype of outside variants. Collectively, these findings suggest a potential model in which outside variants and GWAS SNPs that physically interact in 3D chromatin collude to influence target transcript levels as well as clinical risk. This model offers an additional hypothesis for the source of missing heritability for complex traits.

PanViz: interactive visualization of the structure of functionally annotated pangenomes

DEFF Research Database (Denmark)

Pedersen, Thomas Lin; Nookaew, Intawat; Wayne Ussery, David

2017-01-01

with gene ontology based navigation of gene groups. Furthermore it allows for rich and complex visual querying of gene groups in the pangenome. PanViz visualizations require no external programs and are easily sharable, allowing for rapid pangenome analyses. PanViz is written entirely in Java......PanViz is a novel, interactive, visualization tool for pangenome analysis. PanViz allows visualization of changes in gene group (groups of similar genes across genomes) classification as different subsets of pangenomes are selected, as well as comparisons of individual genomes to pangenomes......Script and is available on https://github.com/thomasp85/PanViz A companion R package that facilitates the creation of PanViz visualizations from a range of data formats is released through Bioconductor and is available at https://bioconductor.org/packages/PanVizGenerator CONTACT: thomasp85@gmail...

Combining computational analyses and interactive visualization for document exploration and sensemaking in jigsaw.

Science.gov (United States)

Görg, Carsten; Liu, Zhicheng; Kihm, Jaeyeon; Choo, Jaegul; Park, Haesun; Stasko, John

2013-10-01

Investigators across many disciplines and organizations must sift through large collections of text documents to understand and piece together information. Whether they are fighting crime, curing diseases, deciding what car to buy, or researching a new field, inevitably investigators will encounter text documents. Taking a visual analytics approach, we integrate multiple text analysis algorithms with a suite of interactive visualizations to provide a flexible and powerful environment that allows analysts to explore collections of documents while sensemaking. Our particular focus is on the process of integrating automated analyses with interactive visualizations in a smooth and fluid manner. We illustrate this integration through two example scenarios: an academic researcher examining InfoVis and VAST conference papers and a consumer exploring car reviews while pondering a purchase decision. Finally, we provide lessons learned toward the design and implementation of visual analytics systems for document exploration and understanding.

All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs

DEFF Research Database (Denmark)

Schork, Andrew J; Thompson, Wesley K; Pham, Phillip

2013-01-01

Recent results indicate that genome-wide association studies (GWAS) have the potential to explain much of the heritability of common complex phenotypes, but methods are lacking to reliably identify the remaining associated single nucleotide polymorphisms (SNPs). We applied stratified False...... Discovery Rate (sFDR) methods to leverage genic enrichment in GWAS summary statistics data to uncover new loci likely to replicate in independent samples. Specifically, we use linkage disequilibrium-weighted annotations for each SNP in combination with nominal p-values to estimate the True Discovery Rate...... in introns, and negative enrichment for intergenic SNPs. Stratified enrichment directly leads to increased TDR for a given p-value, mirrored by increased replication rates in independent samples. We show this in independent Crohn's disease GWAS, where we find a hundredfold variation in replication rate...

Evaluating the Cognitive Aspects of User Interaction with 2D Visual Tagging Systems

Directory of Open Access Journals (Sweden)

Samuel Olugbenga King

2008-04-01

Full Text Available There has been significant interest in thedevelopment and deployment of visual taggingapplications in recent times. But user perceptions aboutthe purpose and function of visual tagging systems havenot received much attention. This paper presents a userexperience study that investigates the cognitive modelsthat novice users have about interacting with visualtagging applications. The results of the study show thatalthough most users are unfamiliar with visual taggingtechnologies, they could accurately predict the purposeand mode of retrieval of data stored in visual tags. Thestudy concludes with suggestions on how to improve therecognition, ease of recall and design of visual tags.

Interactive Visualization of DGA Data Based on Multiple Views

Science.gov (United States)

Geng, Yujie; Lin, Ying; Ma, Yan; Guo, Zhihong; Gu, Chao; Wang, Mingtao

2017-01-01

The commission and operation of dissolved gas analysis (DGA) online monitoring makes up for the weakness of traditional DGA method. However, volume and high-dimensional DGA data brings a huge challenge for monitoring and analysis. In this paper, we present a novel interactive visualization model of DGA data based on multiple views. This model imitates multi-angle analysis by combining parallel coordinates, scatter plot matrix and data table. By offering brush, collaborative filter and focus + context technology, this model provides a convenient and flexible interactive way to analyze and understand the DGA data.

Single nucleotide polymorphisms (SNPs in coding regions of canine dopamine- and serotonin-related genes

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Lingaas Frode

2008-01-01

Full Text Available Abstract Background Polymorphism in genes of regulating enzymes, transporters and receptors of the neurotransmitters of the central nervous system have been associated with altered behaviour, and single nucleotide polymorphisms (SNPs represent the most frequent type of genetic variation. The serotonin and dopamine signalling systems have a central influence on different behavioural phenotypes, both of invertebrates and vertebrates, and this study was undertaken in order to explore genetic variation that may be associated with variation in behaviour. Results Single nucleotide polymorphisms in canine genes related to behaviour were identified by individually sequencing eight dogs (Canis familiaris of different breeds. Eighteen genes from the dopamine and the serotonin systems were screened, revealing 34 SNPs distributed in 14 of the 18 selected genes. A total of 24,895 bp coding sequence was sequenced yielding an average frequency of one SNP per 732 bp (1/732. A total of 11 non-synonymous SNPs (nsSNPs, which may be involved in alteration of protein function, were detected. Of these 11 nsSNPs, six resulted in a substitution of amino acid residue with concomitant change in structural parameters. Conclusion We have identified a number of coding SNPs in behaviour-related genes, several of which change the amino acids of the proteins. Some of the canine SNPs exist in codons that are evolutionary conserved between five compared species, and predictions indicate that they may have a functional effect on the protein. The reported coding SNP frequency of the studied genes falls within the range of SNP frequencies reported earlier in the dog and other mammalian species. Novel SNPs are presented and the results show a significant genetic variation in expressed sequences in this group of genes. The results can contribute to an improved understanding of the genetics of behaviour.

Combinations of SNPs Related to Signal Transduction in Bipolar Disorder

DEFF Research Database (Denmark)

Koefoed, Pernille; Andreassen, Ole A; Bennike, Bente

2011-01-01

of complex diseases, it may be useful to look at combinations of genotypes. Genes related to signal transmission, e.g., ion channel genes, may be of interest in this respect in the context of bipolar disorder. In the present study, we analysed 803 SNPs in 55 genes related to aspects of signal transmission...... and calculated all combinations of three genotypes from the 3×803 SNP genotypes for 1355 controls and 607 patients with bipolar disorder. Four clusters of patient-specific combinations were identified. Permutation tests indicated that some of these combinations might be related to bipolar disorder. The WTCCC...... in the clusters in the two datasets. The present analyses of the combinations of SNP genotypes support a role for both genetic heterogeneity and interactions in the genetic architecture of bipolar disorder....

Cannabis-dependence risk relates to synergism between neuroticism and proenkephalin SNPs associated with amygdala gene expression: case-control study.

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Didier Jutras-Aswad

Full Text Available Many young people experiment with cannabis, yet only a subgroup progress to dependence suggesting individual differences that could relate to factors such as genetics and behavioral traits. Dopamine receptor D2 (DRD2 and proenkephalin (PENK genes have been implicated in animal studies with cannabis exposure. Whether polymorphisms of these genes are associated with cannabis dependence and related behavioral traits is unknown.Healthy young adults (18-27 years with cannabis dependence and without a dependence diagnosis were studied (N = 50/group in relation to a priori-determined single nucleotide polymorphisms (SNPs of the DRD2 and PENK genes. Negative affect, Impulsive Risk Taking and Neuroticism-Anxiety temperamental traits, positive and negative reward-learning performance and stop-signal reaction times were examined. The findings replicated the known association between the rs6277 DRD2 SNP and decisions associated with negative reinforcement outcomes. Moreover, PENK variants (rs2576573 and rs2609997 significantly related to Neuroticism and cannabis dependence. Cigarette smoking is common in cannabis users, but it was not associated to PENK SNPs as also validated in another cohort (N = 247 smokers, N = 312 non-smokers. Neuroticism mediated (15.3%-19.5% the genetic risk to cannabis dependence and interacted with risk SNPs, resulting in a 9-fold increase risk for cannabis dependence. Molecular characterization of the postmortem human brain in a different population revealed an association between PENK SNPs and PENK mRNA expression in the central amygdala nucleus emphasizing the functional relevance of the SNPs in a brain region strongly linked to negative affect.Overall, the findings suggest an important role for Neuroticism as an endophenotype linking PENK polymorphisms to cannabis-dependence vulnerability synergistically amplifying the apparent genetic risk.

The Perceptual Root of Object-Based Storage: An Interactive Model of Perception and Visual Working Memory

Science.gov (United States)

Gao, Tao; Gao, Zaifeng; Li, Jie; Sun, Zhongqiang; Shen, Mowei

2011-01-01

Mainstream theories of visual perception assume that visual working memory (VWM) is critical for integrating online perceptual information and constructing coherent visual experiences in changing environments. Given the dynamic interaction between online perception and VWM, we propose that how visual information is processed during visual…

Audio-visual interactions uniquely contribute to resolution of visual conflict in people possessing absolute pitch.

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Sujin Kim

Full Text Available Individuals possessing absolute pitch (AP are able to identify a given musical tone or to reproduce it without reference to another tone. The present study sought to learn whether this exceptional auditory ability impacts visual perception under stimulus conditions that provoke visual competition in the form of binocular rivalry. Nineteen adult participants with 3-19 years of musical training were divided into two groups according to their performance on a task involving identification of the specific note associated with hearing a given musical pitch. During test trials lasting just over half a minute, participants dichoptically viewed a scrolling musical score presented to one eye and a drifting sinusoidal grating presented to the other eye; throughout the trial they pressed buttons to track the alternations in visual awareness produced by these dissimilar monocular stimuli. On "pitch-congruent" trials, participants heard an auditory melody that was congruent in pitch with the visual score, on "pitch-incongruent" trials they heard a transposed auditory melody that was congruent with the score in melody but not in pitch, and on "melody-incongruent" trials they heard an auditory melody completely different from the visual score. For both groups, the visual musical scores predominated over the gratings when the auditory melody was congruent compared to when it was incongruent. Moreover, the AP participants experienced greater predominance of the visual score when it was accompanied by the pitch-congruent melody compared to the same melody transposed in pitch; for non-AP musicians, pitch-congruent and pitch-incongruent trials yielded equivalent predominance. Analysis of individual durations of dominance revealed differential effects on dominance and suppression durations for AP and non-AP participants. These results reveal that AP is accompanied by a robust form of bisensory interaction between tonal frequencies and musical notation that boosts

Comparative analysis of methods for detecting interacting loci.

Science.gov (United States)

Chen, Li; Yu, Guoqiang; Langefeld, Carl D; Miller, David J; Guy, Richard T; Raghuram, Jayaram; Yuan, Xiguo; Herrington, David M; Wang, Yue

2011-07-05

Interactions among genetic loci are believed to play an important role in disease risk. While many methods have been proposed for detecting such interactions, their relative performance remains largely unclear, mainly because different data sources, detection performance criteria, and experimental protocols were used in the papers introducing these methods and in subsequent studies. Moreover, there have been very few studies strictly focused on comparison of existing methods. Given the importance of detecting gene-gene and gene-environment interactions, a rigorous, comprehensive comparison of performance and limitations of available interaction detection methods is warranted. We report a comparison of eight representative methods, of which seven were specifically designed to detect interactions among single nucleotide polymorphisms (SNPs), with the last a popular main-effect testing method used as a baseline for performance evaluation. The selected methods, multifactor dimensionality reduction (MDR), full interaction model (FIM), information gain (IG), Bayesian epistasis association mapping (BEAM), SNP harvester (SH), maximum entropy conditional probability modeling (MECPM), logistic regression with an interaction term (LRIT), and logistic regression (LR) were compared on a large number of simulated data sets, each, consistent with complex disease models, embedding multiple sets of interacting SNPs, under different interaction models. The assessment criteria included several relevant detection power measures, family-wise type I error rate, and computational complexity. There are several important results from this study. First, while some SNPs in interactions with strong effects are successfully detected, most of the methods miss many interacting SNPs at an acceptable rate of false positives. In this study, the best-performing method was MECPM. Second, the statistical significance assessment criteria, used by some of the methods to control the type I error rate

Comparative analysis of methods for detecting interacting loci

Directory of Open Access Journals (Sweden)

Yuan Xiguo

2011-07-01

Full Text Available Abstract Background Interactions among genetic loci are believed to play an important role in disease risk. While many methods have been proposed for detecting such interactions, their relative performance remains largely unclear, mainly because different data sources, detection performance criteria, and experimental protocols were used in the papers introducing these methods and in subsequent studies. Moreover, there have been very few studies strictly focused on comparison of existing methods. Given the importance of detecting gene-gene and gene-environment interactions, a rigorous, comprehensive comparison of performance and limitations of available interaction detection methods is warranted. Results We report a comparison of eight representative methods, of which seven were specifically designed to detect interactions among single nucleotide polymorphisms (SNPs, with the last a popular main-effect testing method used as a baseline for performance evaluation. The selected methods, multifactor dimensionality reduction (MDR, full interaction model (FIM, information gain (IG, Bayesian epistasis association mapping (BEAM, SNP harvester (SH, maximum entropy conditional probability modeling (MECPM, logistic regression with an interaction term (LRIT, and logistic regression (LR were compared on a large number of simulated data sets, each, consistent with complex disease models, embedding multiple sets of interacting SNPs, under different interaction models. The assessment criteria included several relevant detection power measures, family-wise type I error rate, and computational complexity. There are several important results from this study. First, while some SNPs in interactions with strong effects are successfully detected, most of the methods miss many interacting SNPs at an acceptable rate of false positives. In this study, the best-performing method was MECPM. Second, the statistical significance assessment criteria, used by some of the

A novel statistic for genome-wide interaction analysis.

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Xuesen Wu

2010-09-01

Full Text Available Although great progress in genome-wide association studies (GWAS has been made, the significant SNP associations identified by GWAS account for only a few percent of the genetic variance, leading many to question where and how we can find the missing heritability. There is increasing interest in genome-wide interaction analysis as a possible source of finding heritability unexplained by current GWAS. However, the existing statistics for testing interaction have low power for genome-wide interaction analysis. To meet challenges raised by genome-wide interactional analysis, we have developed a novel statistic for testing interaction between two loci (either linked or unlinked. The null distribution and the type I error rates of the new statistic for testing interaction are validated using simulations. Extensive power studies show that the developed statistic has much higher power to detect interaction than classical logistic regression. The results identified 44 and 211 pairs of SNPs showing significant evidence of interactions with FDR<0.001 and 0.001interacting pairs of SNPs in genes LST1/NCR3, CXCR5/BCL9L, and GLS2, some of which were located in the target sites of miR-324-3p, miR-433, and miR-382, as well as 15 pairs of interacting SNPs that had nonsynonymous substitutions. Our results demonstrated that genome-wide interaction analysis is a valuable tool for finding remaining missing heritability unexplained by the current GWAS, and the developed novel statistic is able to search significant interaction between SNPs across the genome. Real data analysis showed that the results of genome-wide interaction analysis can be replicated in two independent studies.

Visual exploration of movement and event data with interactive time masks

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Natalia Andrienko

2017-03-01

Full Text Available We introduce the concept of time mask, which is a type of temporal filter suitable for selection of multiple disjoint time intervals in which some query conditions fulfil. Such a filter can be applied to time-referenced objects, such as events and trajectories, for selecting those objects or segments of trajectories that fit in one of the selected time intervals. The selected subsets of objects or segments are dynamically summarized in various ways, and the summaries are represented visually on maps and/or other displays to enable exploration. The time mask filtering can be especially helpful in analysis of disparate data (e.g., event records, positions of moving objects, and time series of measurements, which may come from different sources. To detect relationships between such data, the analyst may set query conditions on the basis of one dataset and investigate the subsets of objects and values in the other datasets that co-occurred in time with these conditions. We describe the desired features of an interactive tool for time mask filtering and present a possible implementation of such a tool. By example of analysing two real world data collections related to aviation and maritime traffic, we show the way of using time masks in combination with other types of filters and demonstrate the utility of the time mask filtering. Keywords: Data visualization, Interactive visualization, Interaction technique

Predicting deleterious nsSNPs: an analysis of sequence and structural attributes

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Saqi Mansoor AS

2006-04-01

Full Text Available Abstract Background There has been an explosion in the number of single nucleotide polymorphisms (SNPs within public databases. In this study we focused on non-synonymous protein coding single nucleotide polymorphisms (nsSNPs, some associated with disease and others which are thought to be neutral. We describe the distribution of both types of nsSNPs using structural and sequence based features and assess the relative value of these attributes as predictors of function using machine learning methods. We also address the common problem of balance within machine learning methods and show the effect of imbalance on nsSNP function prediction. We show that nsSNP function prediction can be significantly improved by 100% undersampling of the majority class. The learnt rules were then applied to make predictions of function on all nsSNPs within Ensembl. Results The measure of prediction success is greatly affected by the level of imbalance in the training dataset. We found the balanced dataset that included all attributes produced the best prediction. The performance as measured by the Matthews correlation coefficient (MCC varied between 0.49 and 0.25 depending on the imbalance. As previously observed, the degree of sequence conservation at the nsSNP position is the single most useful attribute. In addition to conservation, structural predictions made using a balanced dataset can be of value. Conclusion The predictions for all nsSNPs within Ensembl, based on a balanced dataset using all attributes, are available as a DAS annotation. Instructions for adding the track to Ensembl are at http://www.brightstudy.ac.uk/das_help.html

Visualizing the process of interaction in a 3D environment

Science.gov (United States)

Vaidya, Vivek; Suryanarayanan, Srikanth; Krishnan, Kajoli; Mullick, Rakesh

2007-03-01

As the imaging modalities used in medicine transition to increasingly three-dimensional data the question of how best to interact with and analyze this data becomes ever more pressing. Immersive virtual reality systems seem to hold promise in tackling this, but how individuals learn and interact in these environments is not fully understood. Here we will attempt to show some methods in which user interaction in a virtual reality environment can be visualized and how this can allow us to gain greater insight into the process of interaction/learning in these systems. Also explored is the possibility of using this method to improve understanding and management of ergonomic issues within an interface.

Application of SNPs for population genetics of nonmodel organisms: new opportunities and challenges

DEFF Research Database (Denmark)

Helyar, S.J.; Hansen, Jakob Hemmer; Bekkevold, Dorte

2011-01-01

Recent improvements in the speed, cost and accuracy of next generation sequencing are revolutionizing the discovery of single nucleotide polymorphisms (SNPs). SNPs are increasingly being used as an addition to the molecular ecology toolkit in nonmodel organisms, but their efficient use remains...

All SNPs Are Not Created Equal: Genome-Wide Association Studies Reveal a Consistent Pattern of Enrichment among Functionally Annotated SNPs

NARCIS (Netherlands)

Schork, Andrew J.; Thompson, Wesley K.; Pham, Phillip; Torkamani, Ali; Roddey, J. Cooper; Sullivan, Patrick F.; Kelsoe, John R.; O'Donovan, Michael C.; Furberg, Helena; Schork, Nicholas J.; Andreassen, Ole A.; Dale, Anders M.; Absher, Devin; Agudo, Antonio; Almgren, Peter; Ardissino, Diego; Assimes, Themistocles L.; Bandinelli, Stephania; Barzan, Luigi; Bencko, Vladimir; Benhamou, Simone; Benjamin, Emelia J.; Bernardinelli, Luisa; Bis, Joshua; Boehnke, Michael; Boerwinkle, Eric; Boomsma, Dorret I.; Brennan, Paul; Canova, Cristina; Castellsagué, Xavier; Chanock, Stephen; Chasman, Daniel; Conway, David I.; Dackor, Jennifer; de Geus, Eco J. C.; Duan, Jubao; Elosua, Roberto; Everett, Brendan; Fabianova, Eleonora; Ferrucci, Luigi; Foretova, Lenka; Fortmann, Stephen P.; Franceschini, Nora; Frayling, Timothy; Furberg, Curt; Gejman, Pablo V.; Groop, Leif; Gu, Fangyi; de Haan, Lieuwe; Linszen, Don H.

2013-01-01

Recent results indicate that genome-wide association studies (GWAS) have the potential to explain much of the heritability of common complex phenotypes, but methods are lacking to reliably identify the remaining associated single nucleotide polymorphisms (SNPs). We applied stratified False Discovery

All SNPs are not created equal: Genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs

NARCIS (Netherlands)

Schork, A.J.; Thompson, W.K.; Pham, P.; Torkamani, A.; Roddey, J.C.; Sullivan, P.F.; Kelsoe, J.; O'Donovan, M.C.; Furberg, H.; Absher, D.; Agudo, A.; Almgren, P.; Ardissino, D.; Assimes, T.L.; Bandinelli, S.; Barzan, L.; Bencko, V.; Benhamou, S.; Benjamin, E.J.; Bernardinelli, L.; Bis, J.; Boehnke, M.; Boerwinkle, E.; Boomsma, D.I.; Brennan, P.; Canova, C.; Castellsagué, X.; Chanock, S.; Chasman, D.I.; Conway, D.I.; Dackor, J.; de Geus, E.J.C.; Duan, J.; Elosua, R.; Everett, B.; Fabianova, E.; Ferrucci, L.; Foretova, L.; Fortmann, S.P.; Franceschini, N.; Frayling, T.M.; Furberg, C.; Gejman, P.V.; Groop, L.; Gu, F.; Guralnik, J.; Hankinson, S.E.; Haritunians, T.; Healy, C.; Hofman, A.; Holcátová, I.; Hunter, D.J.; Hwang, S.J.; Ioannidis, J.P.A.; Iribarren, C.; Jackson, A.U.; Janout, V.; Kaprio, J.; Kim, Y.; Kjaerheim, K.; Knowles, J.W.; Kraft, P.; Ladenvall, C.; Lagiou, P.; Lanthrop, M.; Lerman, C.; Levinson, D.F.; Levy, D.; Li, M.D.; Lin, D.Y.; Lips, E.H.; Lissowska, J.; Lowry, R.B.; Lucas, G.; Macfarlane, T.V.; Maes, H.H.M.; Mannucci, P.M.; Mates, D.; Mauri, F.; McGovern, J.A.; McKay, J.D.; McKnight, B.; Melander, O.; Merlini, P.A.; Milaneschi, Y.; Mohlke, K.L.; O'Donnell, C.J.; Pare, G.; Penninx, B.W.J.H.; Perry, J.R.B.; Posthuma, D.; Preis, S.R.; Psaty, B.; Quertermous, T.; Ramachandran, V.S.; Richiardi, L.; Ridker, P.M.; Rose, J.; Rudnai, P.; Salomaa, V.; Sanders, A.R.; Schwartz, S.M.; Shi, J.; Smit, J.H.; Stringham, H.M.; Szeszenia-Dabrowska, N.; Tanaka, T.; Taylor, K.; Thacker, E.E.; Thornton, L.; Tiemeier, H.; Tuomilehto, J.; Uitterlinden, A.G.; van Duijn, C.M.; Vink, J.M.; Vogelzangs, N.; Voight, B.F.; Walter, S.; Willemsen, G.; Zaridze, D.; Znaor, A.; Akil, H.; Anjorin, A.; Backlund, L.; Badner, J.A.; Barchas, J.D.; Barrett, T.; Bass, N.; Bauer, M.; Bellivier, F.; Bergen, S.E.; Berrettini, W.; Blackwood, D.; Bloss, C.S.; Breen, G.; Breuer, R.; Bunner, W.E.; Burmeister, M.; Byerley, W. F.; Caesar, S.; Chambert, K.; Cichon, S.; St Clair, D.; Collier, D.A.; Corvin, A.; Coryell, W.H.; Craddock, N.; Craig, D.W.; Daly, M.; Day, R.; Degenhardt, F.; Djurovic, S.; Dudbridge, F.; Edenberg, H.J.; Elkin, A.; Etain, B.; Farmer, A.E.; Ferreira, M.A.; Ferrier, I.; Flickinger, M.; Foroud, T.; Frank, J.; Fraser, C.; Frisén, L.; Gershon, E.S.; Gill, M.; Gordon-Smith, K.; Green, E.K.; Greenwood, T.A.; Grozeva, D.; Guan, W.; Gurling, H.; Gustafsson, O.; Hamshere, M.L.; Hautzinger, M.; Herms, S.; Hipolito, M.; Holmans, P.A.; Hultman, C. M.; Jamain, S.; Jones, E.G.; Jones, I.; Jones, L.; Kandaswamy, R.; Kennedy, J.L.; Kirov, G. K.; Koller, D.L.; Kwan, P.; Landén, M.; Langstrom, N.; Lathrop, M.; Lawrence, J.; Lawson, W.B.; Leboyer, M.; Lee, P.H.; Li, J.; Lichtenstein, P.; Lin, D.; Liu, C.; Lohoff, F.W.; Lucae, S.; Mahon, P.B.; Maier, W.; Martin, N.G.; Mattheisen, M.; Matthews, K.; Mattingsdal, M.; McGhee, K.A.; McGuffin, P.; McInnis, M.G.; McIntosh, A.; McKinney, R.; McLean, A.W.; McMahon, F.J.; McQuillin, A.; Meier, S.; Melle, I.; Meng, F.; Mitchell, P.B.; Montgomery, G.W.; Moran, J.; Morken, G.; Morris, D.W.; Moskvina, V.; Muglia, P.; Mühleisen, T.W.; Muir, W.J.; Müller-Myhsok, B.; Myers, R.M.; Nievergelt, C.M.; Nikolov, I.; Nimgaonkar, V.L.; Nöthen, M.M.; Nurnberger, J.I.; Nwulia, E.A.; O'Dushlaine, C.; Osby, U.; Óskarsson, H.; Owen, M.J.; Petursson, H.; Pickard, B.S.; Porgeirsson, P.; Potash, J.B.; Propping, P.; Purcell, S.M.; Quinn, E.; Raychaudhuri, S.; Rice, J.; Rietschel, M.; Ruderfer, D.; Schalling, M.; Schatzberg, A.F.; Scheftner, W.A.; Schofield, P.R.; Schulze, T.G.; Schumacher, J.; Schwarz, M.M.; Scolnick, E.; Scott, L.J.; Shilling, P.D.; Sigurdsson, E.; Sklar, P.; Smith, E.N.; Stefansson, H.; Stefansson, K.; Steffens, M; Steinberg, S.; Strauss, J.; Strohmaier, J.; Szelinger, S.; Thompson, R.C.; Tozzi, F.; Treutlein, J.; Vincent, J.B.; Watson, S.J.; Wienker, T.F.; Williamson, R.; Witt, S.H.; Wright, A.; Xu, W.; Young, A.H.; Zandi, P.P.; Zhang, P.; Zöllner, S.; Agartz, I.; Albus, M.; Alexander, M.; Amdur, R. L.; Amin, F.; Bitter, I.; Black, D.W.; Børglum, A.D.; Brown, M.A.; Bruggeman, R.; Buccola, N.G.; Cahn, W.; Cantor, R.M.; Carr, V.J.; Catts, S. V.; Choudhury, K.; Cloninger, C. R.; Cormican, P.; Danoy, P. A.; Datta, S.; DeHert, M.; Demontis, D.; Dikeos, D.; Donnelly, P.; Donohoe, G.; Duong, L.; Dwyer, S.; Fanous, A.; Fink-Jensen, A.; Freedman, R.; Freimer, N.B.; Friedl, M.; Georgieva, L.; Giegling, I.; Glenthoj, B.; Godard, S.; Golimbet, V.; de Haan, L.; Hansen, M.; Hansen, T.; Hartmann, A.M.; Henskens, F. A.; Hougaard, D. M.; Ingason, A.; Jablensky, A. V.; Jakobsen, K.D.; Jay, M.; Jönsson, E.G.; Jürgens, G.; Kahn, R.S.; Keller, M.C.; Kendler, K.S.; Kenis, G.; Kenny, E.; Konnerth, H.; Konte, B.; Krabbendam, L.; Krasucki, R.; Lasseter, V. K.; Laurent, C.; Lencz, T.; Lerer, F. B.; Liang, K. Y.; Lieberman, J. A.; Linszen, D.H.; Lönnqvist, J.; Loughland, C. M.; Maclean, A. W.; Maher, B.S.; Malhotra, A.K.; Mallet, J.; Malloy, P.; McGrath, J. J.; McLean, D. E.; Michie, P. T.; Milanova, V.; Mors, O.; Mortensen, P.B.; Mowry, B. J.; Myin-Germeys, I.; Neale, B.; Nertney, D. A.; Nestadt, G.; Nielsen, J.; Nordentoft, M.; Norton, N.; O'Neill, F.; Olincy, A.; Olsen, L.; Ophoff, R.A.; Orntoft, T. F.; van Os, J.; Pantelis, C.; Papadimitriou, G.; Pato, C.N.; Peltonen, L.; Pickard, B.; Pietilainen, O.P.; Pimm, J.; Pulver, A. E.; Puri, V.; Quested, D.; Rasmussen, H.B.; Rethelyi, J.M.; Ribble, R.; Riley, B.P.; Rossin, L.; Ruggeri, M.; Rujescu, D.; Schall, U.; Schwab, S. G.; Scott, R.J.; Silverman, J.M.; Spencer, C. C.; Strange, A.; Strengman, E.; Stroup, T.S.; Suvisaari, J.; Terenius, L.; Thirumalai, S.; Timm, S.; Toncheva, D.; Tosato, S.; van den Oord, E.J.; Veldink, J.; Visscher, P.M.; Walsh, D.; Wang, A. G.; Werge, T.; Wiersma, D.; Wildenauer, D. B.; Williams, H.J.; Williams, N.M.; van Winkel, R.; Wormley, B.; Zammit, S.; Schork, N.J.; Andreassen, O.A.; Dale, A.M.

2013-01-01

Recent results indicate that genome-wide association studies (GWAS) have the potential to explain much of the heritability of common complex phenotypes, but methods are lacking to reliably identify the remaining associated single nucleotide polymorphisms (SNPs). We applied stratified False Discovery

Novel SNPs polymorphism of bovine CACNA2D1 gene and their ...

African Journals Online (AJOL)

In this study, the bovine CACNA2D1 gene was taken as a candidate gene for mastitis resistance. The objective of this study was to identify single nucleotide polymorphisms (SNPs) in the bovine CACNA2D1 gene and evaluate the association of these SNPs with mastitis in cattle. Through DNA sequencing and PCR-RFLP ...

Forensic genetic informativeness of an SNP panel consisting of 19 multi-allelic SNPs.

Science.gov (United States)

Gao, Zehua; Chen, Xiaogang; Zhao, Yuancun; Zhao, Xiaohong; Zhang, Shu; Yang, Yiwen; Wang, Yufang; Zhang, Ji

2018-05-01

Current research focusing on forensic personal identification, phenotype inference and ancestry information on single-nucleotide polymorphisms (SNPs) has been widely reported. In the present study, we focused on tetra-allelic SNPs in the Chinese Han population. A total of 48 tetra-allelic SNPs were screened out from the Chinese Han population of the 1000 Genomes Database, including Chinese Han in Beijing (CHB) and Chinese Han South (CHS). Considering the forensic genetic requirement for the polymorphisms, only 11 tetra-allelic SNPs with a heterozygosity >0.06 were selected for further multiplex panel construction. In order to meet the demands of personal identification and parentage identification, an additional 8 tri-allelic SNPs were combined into the final multiplex panel. To ensure application in the degraded DNA analysis, all the PCR products were designed to be 87-188 bp. Employing multiple PCR reactions and SNaPshot minisequencing, 511 unrelated Chinese Han individuals from Sichuan were genotyped. The combined match probability (CMP), combined discrimination power (CDP), and cumulative probability of exclusion (CPE) of the panel were 6.07 × 10 -11 , 0.9999999999393 and 0.996764, respectively. Based on the population data retrieved from the 1000 Genomes Project, Fst values between Chinese Han in Sichuan (SCH) and all the populations included in the 1000 Genomes Project were calculated. The results indicated that two SNPs in this panel may contain ancestry information and may be used as markers of forensic biogeographical ancestry inference. Copyright © 2018 Elsevier B.V. All rights reserved.

A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwide population groups.

Science.gov (United States)

Salas, Antonio; Amigo, Jorge

2010-05-03

The high levels of variation characterising the mitochondrial DNA (mtDNA) molecule are due ultimately to its high average mutation rate; moreover, mtDNA variation is deeply structured in different populations and ethnic groups. There is growing interest in selecting a reduced number of mtDNA single nucleotide polymorphisms (mtSNPs) that account for the maximum level of discrimination power in a given population. Applications of the selected mtSNP panel range from anthropologic and medical studies to forensic genetic casework. This study proposes a new simulation-based method that explores the ability of different mtSNP panels to yield the maximum levels of discrimination power. The method explores subsets of mtSNPs of different sizes randomly chosen from a preselected panel of mtSNPs based on frequency. More than 2,000 complete genomes representing three main continental human population groups (Africa, Europe, and Asia) and two admixed populations ("African-Americans" and "Hispanics") were collected from GenBank and the literature, and were used as training sets. Haplotype diversity was measured for each combination of mtSNP and compared with existing mtSNP panels available in the literature. The data indicates that only a reduced number of mtSNPs ranging from six to 22 are needed to account for 95% of the maximum haplotype diversity of a given population sample. However, only a small proportion of the best mtSNPs are shared between populations, indicating that there is not a perfect set of "universal" mtSNPs suitable for all population contexts. The discrimination power provided by these mtSNPs is much higher than the power of the mtSNP panels proposed in the literature to date. Some mtSNP combinations also yield high diversity values in admixed populations. The proposed computational approach for exploring combinations of mtSNPs that optimise the discrimination power of a given set of mtSNPs is more efficient than previous empirical approaches. In contrast to

GRAVE: An Interactive Geometry Construction and Visualization Software System for the TORT Nuclear Radiation Transport Code

International Nuclear Information System (INIS)

Blakeman, E.D.

2000-01-01

A software system, GRAVE (Geometry Rendering and Visual Editor), has been developed at the Oak Ridge National Laboratory (ORNL) to perform interactive visualization and development of models used as input to the TORT three-dimensional discrete ordinates radiation transport code. Three-dimensional and two-dimensional visualization displays are included. Display capabilities include image rotation, zoom, translation, wire-frame and translucent display, geometry cuts and slices, and display of individual component bodies and material zones. The geometry can be interactively edited and saved in TORT input file format. This system is an advancement over the current, non-interactive, two-dimensional display software. GRAVE is programmed in the Java programming language and can be implemented on a variety of computer platforms. Three- dimensional visualization is enabled through the Visualization Toolkit (VTK), a free-ware C++ software library developed for geometric and data visual display. Future plans include an extension of the system to read inputs using binary zone maps and combinatorial geometry models containing curved surfaces, such as those used for Monte Carlo code inputs. Also GRAVE will be extended to geometry visualization/editing for the DORT two-dimensional transport code and will be integrated into a single GUI-based system for all of the ORNL discrete ordinates transport codes

Interactive visualization and analysis of multimodal datasets for surgical applications.

Science.gov (United States)

Kirmizibayrak, Can; Yim, Yeny; Wakid, Mike; Hahn, James

2012-12-01

Surgeons use information from multiple sources when making surgical decisions. These include volumetric datasets (such as CT, PET, MRI, and their variants), 2D datasets (such as endoscopic videos), and vector-valued datasets (such as computer simulations). Presenting all the information to the user in an effective manner is a challenging problem. In this paper, we present a visualization approach that displays the information from various sources in a single coherent view. The system allows the user to explore and manipulate volumetric datasets, display analysis of dataset values in local regions, combine 2D and 3D imaging modalities and display results of vector-based computer simulations. Several interaction methods are discussed: in addition to traditional interfaces including mouse and trackers, gesture-based natural interaction methods are shown to control these visualizations with real-time performance. An example of a medical application (medialization laryngoplasty) is presented to demonstrate how the combination of different modalities can be used in a surgical setting with our approach.

Communicative interactions improve visual detection of biological motion.

Directory of Open Access Journals (Sweden)

Valeria Manera

Full Text Available BACKGROUND: In the context of interacting activities requiring close-body contact such as fighting or dancing, the actions of one agent can be used to predict the actions of the second agent. In the present study, we investigated whether interpersonal predictive coding extends to interactive activities--such as communicative interactions--in which no physical contingency is implied between the movements of the interacting individuals. METHODOLOGY/PRINCIPAL FINDINGS: Participants observed point-light displays of two agents (A and B performing separate actions. In the communicative condition, the action performed by agent B responded to a communicative gesture performed by agent A. In the individual condition, agent A's communicative action was substituted with a non-communicative action. Using a simultaneous masking detection task, we demonstrate that observing the communicative gesture performed by agent A enhanced visual discrimination of agent B. CONCLUSIONS/SIGNIFICANCE: Our finding complements and extends previous evidence for interpersonal predictive coding, suggesting that the communicative gestures of one agent can serve as a predictor for the expected actions of the respondent, even if no physical contact between agents is implied.

HPIminer: A text mining system for building and visualizing human protein interaction networks and pathways.

Science.gov (United States)

Subramani, Suresh; Kalpana, Raja; Monickaraj, Pankaj Moses; Natarajan, Jeyakumar

2015-04-01

The knowledge on protein-protein interactions (PPI) and their related pathways are equally important to understand the biological functions of the living cell. Such information on human proteins is highly desirable to understand the mechanism of several diseases such as cancer, diabetes, and Alzheimer's disease. Because much of that information is buried in biomedical literature, an automated text mining system for visualizing human PPI and pathways is highly desirable. In this paper, we present HPIminer, a text mining system for visualizing human protein interactions and pathways from biomedical literature. HPIminer extracts human PPI information and PPI pairs from biomedical literature, and visualize their associated interactions, networks and pathways using two curated databases HPRD and KEGG. To our knowledge, HPIminer is the first system to build interaction networks from literature as well as curated databases. Further, the new interactions mined only from literature and not reported earlier in databases are highlighted as new. A comparative study with other similar tools shows that the resultant network is more informative and provides additional information on interacting proteins and their associated networks. Copyright © 2015 Elsevier Inc. All rights reserved.

RTEL1 tagging SNPs and haplotypes were associated with glioma development.

Science.gov (United States)

Li, Gang; Jin, Tianbo; Liang, Hongjuan; Zhang, Zhiguo; He, Shiming; Tu, Yanyang; Yang, Haixia; Geng, Tingting; Cui, Guangbin; Chen, Chao; Gao, Guodong

2013-05-17

As glioma ranks as the first most prevalent solid tumors in primary central nervous system, certain single-nucleotide polymorphisms (SNPs) may be related to increased glioma risk, and have implications in carcinogenesis. The present case-control study was carried out to elucidate how common variants contribute to glioma susceptibility. Ten candidate tagging SNPs (tSNPs) were selected from seven genes whose polymorphisms have been proven by classical literatures and reliable databases to be tended to relate with gliomas, and with the minor allele frequency (MAF)>5% in the HapMap Asian population. The selected tSNPs were genotyped in 629 glioma patients and 645 controls from a Han Chinese population using the multiplexed SNP MassEXTEND assay calibrated. Two significant tSNPs in RTEL1 gene were observed to be associated with glioma risk (rs6010620, P=0.0016, OR: 1.32, 95% CI: 1.11-1.56; rs2297440, P=0.001, OR: 1.33, 95% CI: 1.12-1.58) by χ2 test. It was identified the genotype "GG" of rs6010620 acted as the protective genotype for glioma (OR, 0.46; 95% CI, 0.31-0.7; P=0.0002), while the genotype "CC" of rs2297440 as the protective genotype in glioma (OR, 0.47; 95% CI, 0.31-0.71; P=0.0003). Furthermore, haplotype "GCT" in RTEL1 gene was found to be associated with risk of glioma (OR, 0.7; 95% CI, 0.57-0.86; Fisher's P=0.0005; Pearson's P=0.0005), and haplotype "ATT" was detected to be associated with risk of glioma (OR, 1.32; 95% CI, 1.12-1.57; Fisher's P=0.0013; Pearson's P=0.0013). Two single variants, the genotypes of "GG" of rs6010620 and "CC" of rs2297440 (rs6010620 and rs2297440) in the RTEL1 gene, together with two haplotypes of GCT and ATT, were identified to be associated with glioma development. And it might be used to evaluate the glioma development risks to screen the above RTEL1 tagging SNPs and haplotypes. The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1993021136961998.

Interaction between numbers and size during visual search

OpenAIRE

Krause, Florian; Bekkering, Harold; Pratt, Jay; Lindemann, Oliver

2016-01-01

The current study investigates an interaction between numbers and physical size (i.e. size congruity) in visual search. In three experiments, participants had to detect a physically large (or small) target item among physically small (or large) distractors in a search task comprising single-digit numbers. The relative numerical size of the digits was varied, such that the target item was either among the numerically large or small numbers in the search display and the relation between numeric...

Interactive Design and Visualization of Branched Covering Spaces.

Science.gov (United States)

Roy, Lawrence; Kumar, Prashant; Golbabaei, Sanaz; Zhang, Yue; Zhang, Eugene

2018-01-01

Branched covering spaces are a mathematical concept which originates from complex analysis and topology and has applications in tensor field topology and geometry remeshing. Given a manifold surface and an -way rotational symmetry field, a branched covering space is a manifold surface that has an -to-1 map to the original surface except at the ramification points, which correspond to the singularities in the rotational symmetry field. Understanding the notion and mathematical properties of branched covering spaces is important to researchers in tensor field visualization and geometry processing, and their application areas. In this paper, we provide a framework to interactively design and visualize the branched covering space (BCS) of an input mesh surface and a rotational symmetry field defined on it. In our framework, the user can visualize not only the BCSs but also their construction process. In addition, our system allows the user to design the geometric realization of the BCS using mesh deformation techniques as well as connecting tubes. This enables the user to verify important facts about BCSs such as that they are manifold surfaces around singularities, as well as the Riemann-Hurwitz formula which relates the Euler characteristic of the BCS to that of the original mesh. Our system is evaluated by student researchers in scientific visualization and geometry processing as well as faculty members in mathematics at our university who teach topology. We include their evaluations and feedback in the paper.

FUn: a framework for interactive visualizations of large, high-dimensional datasets on the web.

Science.gov (United States)

Probst, Daniel; Reymond, Jean-Louis

2018-04-15

During the past decade, big data have become a major tool in scientific endeavors. Although statistical methods and algorithms are well-suited for analyzing and summarizing enormous amounts of data, the results do not allow for a visual inspection of the entire data. Current scientific software, including R packages and Python libraries such as ggplot2, matplotlib and plot.ly, do not support interactive visualizations of datasets exceeding 100 000 data points on the web. Other solutions enable the web-based visualization of big data only through data reduction or statistical representations. However, recent hardware developments, especially advancements in graphical processing units, allow for the rendering of millions of data points on a wide range of consumer hardware such as laptops, tablets and mobile phones. Similar to the challenges and opportunities brought to virtually every scientific field by big data, both the visualization of and interaction with copious amounts of data are both demanding and hold great promise. Here we present FUn, a framework consisting of a client (Faerun) and server (Underdark) module, facilitating the creation of web-based, interactive 3D visualizations of large datasets, enabling record level visual inspection. We also introduce a reference implementation providing access to SureChEMBL, a database containing patent information on more than 17 million chemical compounds. The source code and the most recent builds of Faerun and Underdark, Lore.js and the data preprocessing toolchain used in the reference implementation, are available on the project website (http://doc.gdb.tools/fun/). daniel.probst@dcb.unibe.ch or jean-louis.reymond@dcb.unibe.ch.

Detecting high-order interactions of single nucleotide polymorphisms using genetic programming.

Science.gov (United States)

Nunkesser, Robin; Bernholt, Thorsten; Schwender, Holger; Ickstadt, Katja; Wegener, Ingo

2007-12-15

Not individual single nucleotide polymorphisms (SNPs), but high-order interactions of SNPs are assumed to be responsible for complex diseases such as cancer. Therefore, one of the major goals of genetic association studies concerned with such genotype data is the identification of these high-order interactions. This search is additionally impeded by the fact that these interactions often are only explanatory for a relatively small subgroup of patients. Most of the feature selection methods proposed in the literature, unfortunately, fail at this task, since they can either only identify individual variables or interactions of a low order, or try to find rules that are explanatory for a high percentage of the observations. In this article, we present a procedure based on genetic programming and multi-valued logic that enables the identification of high-order interactions of categorical variables such as SNPs. This method called GPAS cannot only be used for feature selection, but can also be employed for discrimination. In an application to the genotype data from the GENICA study, an association study concerned with sporadic breast cancer, GPAS is able to identify high-order interactions of SNPs leading to a considerably increased breast cancer risk for different subsets of patients that are not found by other feature selection methods. As an application to a subset of the HapMap data shows, GPAS is not restricted to association studies comprising several 10 SNPs, but can also be employed to analyze whole-genome data. Software can be downloaded from http://ls2-www.cs.uni-dortmund.de/~nunkesser/#Software

Exploiting visual search theory to infer social interactions

Science.gov (United States)

Rota, Paolo; Dang-Nguyen, Duc-Tien; Conci, Nicola; Sebe, Nicu

2013-03-01

In this paper we propose a new method to infer human social interactions using typical techniques adopted in literature for visual search and information retrieval. The main piece of information we use to discriminate among different types of interactions is provided by proxemics cues acquired by a tracker, and used to distinguish between intentional and casual interactions. The proxemics information has been acquired through the analysis of two different metrics: on the one hand we observe the current distance between subjects, and on the other hand we measure the O-space synergy between subjects. The obtained values are taken at every time step over a temporal sliding window, and processed in the Discrete Fourier Transform (DFT) domain. The features are eventually merged into an unique array, and clustered using the K-means algorithm. The clusters are reorganized using a second larger temporal window into a Bag Of Words framework, so as to build the feature vector that will feed the SVM classifier.

Metaviz: interactive statistical and visual analysis of metagenomic data.

Science.gov (United States)

Wagner, Justin; Chelaru, Florin; Kancherla, Jayaram; Paulson, Joseph N; Zhang, Alexander; Felix, Victor; Mahurkar, Anup; Elmqvist, Niklas; Corrada Bravo, Héctor

2018-04-06

Large studies profiling microbial communities and their association with healthy or disease phenotypes are now commonplace. Processed data from many of these studies are publicly available but significant effort is required for users to effectively organize, explore and integrate it, limiting the utility of these rich data resources. Effective integrative and interactive visual and statistical tools to analyze many metagenomic samples can greatly increase the value of these data for researchers. We present Metaviz, a tool for interactive exploratory data analysis of annotated microbiome taxonomic community profiles derived from marker gene or whole metagenome shotgun sequencing. Metaviz is uniquely designed to address the challenge of browsing the hierarchical structure of metagenomic data features while rendering visualizations of data values that are dynamically updated in response to user navigation. We use Metaviz to provide the UMD Metagenome Browser web service, allowing users to browse and explore data for more than 7000 microbiomes from published studies. Users can also deploy Metaviz as a web service, or use it to analyze data through the metavizr package to interoperate with state-of-the-art analysis tools available through Bioconductor. Metaviz is free and open source with the code, documentation and tutorials publicly accessible.

Instant Gratification: Striking a Balance Between Rich Interactive Visualization and Ease of Use for Casual Web Surfers

Science.gov (United States)

Russell, R. M.; Johnson, R. M.; Gardiner, E. S.; Bergman, J. J.; Genyuk, J.; Henderson, S.

2004-12-01

Interactive visualizations can be powerful tools for helping students, teachers, and the general public comprehend significant features in rich datasets and complex systems. Successful use of such visualizations requires viewers to have, or to acquire, adequate expertise in use of the relevant visualization tools. In many cases, the learning curve associated with competent use of such tools is too steep for casual users, such as members of the lay public browsing science outreach web sites or K-12 students and teachers trying to integrate such tools into their learning about geosciences. "Windows to the Universe" (http://www.windows.ucar.edu) is a large (roughly 6,000 web pages), well-established (first posted online in 1995), and popular (over 5 million visitor sessions and 40 million pages viewed per year) science education web site that covers a very broad range of Earth science and space science topics. The primary audience of the site consists of K-12 students and teachers and the general public. We have developed several interactive visualizations for use on the site in conjunction with text and still image reference materials. One major emphasis in the design of these interactives has been to ensure that casual users can quickly learn how to use the interactive features without becoming frustrated and departing before they were able to appreciate the visualizations displayed. We will demonstrate several of these "user-friendly" interactive visualizations and comment on the design philosophy we have employed in developing them.

Association between SNPs within candidate genes and compounds related to boar taint and reproduction

DEFF Research Database (Denmark)

Moe, Maren; Lien, Sigbjørn; Aasmundstad, Torunn

2009-01-01

BACKGROUND: Boar taint is an unpleasant odour and flavour of the meat from some uncastrated male pigs primarily caused by elevated levels of androstenone and skatole in adipose tissue. Androstenone is produced in the same biochemical pathway as testosterone and estrogens, which represents...... of this study was to detect SNPs in boar taint candidate genes and to perform association studies for both single SNPs and haplotypes with levels of boar taint compounds and phenotypes related to reproduction. RESULTS: An association study involving 275 SNPs in 121 genes and compounds related to boar taint...... and reproduction were carried out in Duroc and Norwegian Landrace boars. Phenotypes investigated were levels of androstenone, skatole and indole in adipose tissue, levels of androstenone, testosterone, estrone sulphate and 17beta-estradiol in plasma, and length of bulbo urethralis gland. The SNPs were genotyped...

Enhanced audio-visual interactions in the auditory cortex of elderly cochlear-implant users.

Science.gov (United States)

Schierholz, Irina; Finke, Mareike; Schulte, Svenja; Hauthal, Nadine; Kantzke, Christoph; Rach, Stefan; Büchner, Andreas; Dengler, Reinhard; Sandmann, Pascale

2015-10-01

Auditory deprivation and the restoration of hearing via a cochlear implant (CI) can induce functional plasticity in auditory cortical areas. How these plastic changes affect the ability to integrate combined auditory (A) and visual (V) information is not yet well understood. In the present study, we used electroencephalography (EEG) to examine whether age, temporary deafness and altered sensory experience with a CI can affect audio-visual (AV) interactions in post-lingually deafened CI users. Young and elderly CI users and age-matched NH listeners performed a speeded response task on basic auditory, visual and audio-visual stimuli. Regarding the behavioral results, a redundant signals effect, that is, faster response times to cross-modal (AV) than to both of the two modality-specific stimuli (A, V), was revealed for all groups of participants. Moreover, in all four groups, we found evidence for audio-visual integration. Regarding event-related responses (ERPs), we observed a more pronounced visual modulation of the cortical auditory response at N1 latency (approximately 100 ms after stimulus onset) in the elderly CI users when compared with young CI users and elderly NH listeners. Thus, elderly CI users showed enhanced audio-visual binding which may be a consequence of compensatory strategies developed due to temporary deafness and/or degraded sensory input after implantation. These results indicate that the combination of aging, sensory deprivation and CI facilitates the coupling between the auditory and the visual modality. We suggest that this enhancement in multisensory interactions could be used to optimize auditory rehabilitation, especially in elderly CI users, by the application of strong audio-visually based rehabilitation strategies after implant switch-on. Copyright © 2015 Elsevier B.V. All rights reserved.

Development of a visual tool to analyze interactions in forums in an e-learning environment

Directory of Open Access Journals (Sweden)

Cláudio Filipe Tereso

2016-12-01

Full Text Available This article presents VAFAE – Forum Access Visualization on a Distance Learning Environment, a web tool that visually maps Universidade Aberta’s (UAb students’ interaction with a course available on the e-learning platform. Raw data is extracted from the log files that are then transformed to obtain the necessary format. Next, different visualization techniques are applied with the aim of improving and streamlining the underlying information. In a more specific way, VAFAE aims at helping teachers to better understand the level and quality of the interaction of the students with the modules of the learning units in UAb’s distance learning environment.

TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients

International Nuclear Information System (INIS)

Fachal, Laura; Gómez-Caamaño, Antonio; Sánchez-García, Manuel; Carballo, Ana; Peleteiro, Paula; Lobato-Busto, Ramón; Carracedo, Ángel; Vega, Ana

2012-01-01

Background and purpose: We have performed a case-control study in 413 prostate cancer patients to test for association between TGFβ1 and the development of late normal-tissue toxicity among prostate cancer patients treated with three-dimensional conformational radiotherapy (3D-CRT) Materials and methods: Late gastrointestinal and genitourinary toxicities were assessed for at least two years after radiotherapy in 413 patients according to CTCAEvs3 scores. Codominant genotypic tests and haplotypic analyses were undertaken to evaluate the correlation between TGFβ1 SNPs rs1800469, rs1800470 and rs1800472 and radio-induced toxicity. Results: Neither the SNPs nor the haplotypes were found to be associated with the risk of late toxicity. Conclusions: We were able to exclude up to a 2-fold increase in the risk of developing late gastrointestinal and genitourinary radio-induced toxicity due to the TGFβ1 SNPs rs1800469 and rs1800470, as well as the two most frequent TGFβ1 haplotypes.

The more from East-Asian, the better: risk prediction of colorectal cancer risk by GWAS-identified SNPs among Japanese.

Science.gov (United States)

Abe, Makiko; Ito, Hidemi; Oze, Isao; Nomura, Masatoshi; Ogawa, Yoshihiro; Matsuo, Keitaro

2017-12-01

Little is known about the difference of genetic predisposition for CRC between ethnicities; however, many genetic traits common to colorectal cancer have been identified. This study investigated whether more SNPs identified in GWAS in East Asian population could improve the risk prediction of Japanese and explored possible application of genetic risk groups as an instrument of the risk communication. 558 Patients histologically verified colorectal cancer and 1116 first-visit outpatients were included for derivation study, and 547 cases and 547 controls were for replication study. Among each population, we evaluated prediction models for the risk of CRC that combined the genetic risk group based on SNPs from GWASs in European-population and a similarly developed model adding SNPs from GWASs in East Asian-population. We examined whether adding East Asian-specific SNPs would improve the discrimination. Six SNPs (rs6983267, rs4779584, rs4444235, rs9929218, rs10936599, rs16969681) from 23 SNPs by European-based GWAS and five SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279) among ten SNPs by Asian-based GWAS were selected in CRC risk prediction model. Compared with a 6-SNP-based model, an 11-SNP model including Asian GWAS-SNPs showed improved discrimination capacity in Receiver operator characteristic analysis. A model with 11 SNPs resulted in statistically significant improvement in both derivation (P = 0.0039) and replication studies (P = 0.0018) compared with six SNP model. We estimated cumulative risk of CRC by using genetic risk group based on 11 SNPs and found that the cumulative risk at age 80 is approximately 13% in the high-risk group while 6% in the low-risk group. We constructed a more efficient CRC risk prediction model with 11 SNPs including newly identified East Asian-based GWAS SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279). Risk grouping based on 11 SNPs depicted lifetime difference of CRC risk. This might be useful for

COMPARISON OF USER PERFORMANCE WITH INTERACTIVE AND STATIC 3D VISUALIZATION – PILOT STUDY

Directory of Open Access Journals (Sweden)

L. Herman

2016-06-01

Full Text Available Interactive 3D visualizations of spatial data are currently available and popular through various applications such as Google Earth, ArcScene, etc. Several scientific studies have focused on user performance with 3D visualization, but static perspective views are used as stimuli in most of the studies. The main objective of this paper is to try to identify potential differences in user performance with static perspective views and interactive visualizations. This research is an exploratory study. An experiment was designed as a between-subject study and a customized testing tool based on open web technologies was used for the experiment. The testing set consists of an initial questionnaire, a training task and four experimental tasks. Selection of the highest point and determination of visibility from the top of a mountain were used as the experimental tasks. Speed and accuracy of each task performance of participants were recorded. The movement and actions in the virtual environment were also recorded within the interactive variant. The results show that participants deal with the tasks faster when using static visualization. The average error rate was also higher in the static variant. The findings from this pilot study will be used for further testing, especially for formulating of hypotheses and designing of subsequent experiments.

Visualization and interaction tools for aerial photograph mosaics

Science.gov (United States)

Fernandes, João Pedro; Fonseca, Alexandra; Pereira, Luís; Faria, Adriano; Figueira, Helder; Henriques, Inês; Garção, Rita; Câmara, António

1997-05-01

This paper describes the development of a digital spatial library based on mosaics of digital orthophotos, called Interactive Portugal, that will enable users both to retrieve geospatial information existing in the Portuguese National System for Geographic Information World Wide Web server, and to develop local databases connected to the main system. A set of navigation, interaction, and visualization tools are proposed and discussed. They include sketching, dynamic sketching, and navigation capabilities over the digital orthophotos mosaics. Main applications of this digital spatial library are pointed out and discussed, namely for education, professional, and tourism markets. Future developments are considered. These developments are related to user reactions, technological advancements, and projects that also aim at delivering and exploring digital imagery on the World Wide Web. Future capabilities for site selection and change detection are also considered.

PyContact: Rapid, Customizable, and Visual Analysis of Noncovalent Interactions in MD Simulations.

Science.gov (United States)

Scheurer, Maximilian; Rodenkirch, Peter; Siggel, Marc; Bernardi, Rafael C; Schulten, Klaus; Tajkhorshid, Emad; Rudack, Till

2018-02-06

Molecular dynamics (MD) simulations have become ubiquitous in all areas of life sciences. The size and model complexity of MD simulations are rapidly growing along with increasing computing power and improved algorithms. This growth has led to the production of a large amount of simulation data that need to be filtered for relevant information to address specific biomedical and biochemical questions. One of the most relevant molecular properties that can be investigated by all-atom MD simulations is the time-dependent evolution of the complex noncovalent interaction networks governing such fundamental aspects as molecular recognition, binding strength, and mechanical and structural stability. Extracting, evaluating, and visualizing noncovalent interactions is a key task in the daily work of structural biologists. We have developed PyContact, an easy-to-use, highly flexible, and intuitive graphical user interface-based application, designed to provide a toolkit to investigate biomolecular interactions in MD trajectories. PyContact is designed to facilitate this task by enabling identification of relevant noncovalent interactions in a comprehensible manner. The implementation of PyContact as a standalone application enables rapid analysis and data visualization without any additional programming requirements, and also preserves full in-program customization and extension capabilities for advanced users. The statistical analysis representation is interactively combined with full mapping of the results on the molecular system through the synergistic connection between PyContact and VMD. We showcase the capabilities and scientific significance of PyContact by analyzing and visualizing in great detail the noncovalent interactions underlying the ion permeation pathway of the human P2X 3 receptor. As a second application, we examine the protein-protein interaction network of the mechanically ultrastable cohesin-dockering complex. Copyright © 2017 Biophysical Society

An interactive visualization tool for multi-channel confocal microscopy data in neurobiology research

KAUST Repository

Yong Wan,

2009-11-01

Confocal microscopy is widely used in neurobiology for studying the three-dimensional structure of the nervous system. Confocal image data are often multi-channel, with each channel resulting from a different fluorescent dye or fluorescent protein; one channel may have dense data, while another has sparse; and there are often structures at several spatial scales: subneuronal domains, neurons, and large groups of neurons (brain regions). Even qualitative analysis can therefore require visualization using techniques and parameters fine-tuned to a particular dataset. Despite the plethora of volume rendering techniques that have been available for many years, the techniques standardly used in neurobiological research are somewhat rudimentary, such as looking at image slices or maximal intensity projections. Thus there is a real demand from neurobiologists, and biologists in general, for a flexible visualization tool that allows interactive visualization of multi-channel confocal data, with rapid fine-tuning of parameters to reveal the three-dimensional relationships of structures of interest. Together with neurobiologists, we have designed such a tool, choosing visualization methods to suit the characteristics of confocal data and a typical biologist\\'s workflow. We use interactive volume rendering with intuitive settings for multidimensional transfer functions, multiple render modes and multi-views for multi-channel volume data, and embedding of polygon data into volume data for rendering and editing. As an example, we apply this tool to visualize confocal microscopy datasets of the developing zebrafish visual system.

D Modelling and Interactive Web-Based Visualization of Cultural Heritage Objects

Science.gov (United States)

Koeva, M. N.

2016-06-01

Nowadays, there are rapid developments in the fields of photogrammetry, laser scanning, computer vision and robotics, together aiming to provide highly accurate 3D data that is useful for various applications. In recent years, various LiDAR and image-based techniques have been investigated for 3D modelling because of their opportunities for fast and accurate model generation. For cultural heritage preservation and the representation of objects that are important for tourism and their interactive visualization, 3D models are highly effective and intuitive for present-day users who have stringent requirements and high expectations. Depending on the complexity of the objects for the specific case, various technological methods can be applied. The selected objects in this particular research are located in Bulgaria - a country with thousands of years of history and cultural heritage dating back to ancient civilizations. This motivates the preservation, visualisation and recreation of undoubtedly valuable historical and architectural objects and places, which has always been a serious challenge for specialists in the field of cultural heritage. In the present research, comparative analyses regarding principles and technological processes needed for 3D modelling and visualization are presented. The recent problems, efforts and developments in interactive representation of precious objects and places in Bulgaria are presented. Three technologies based on real projects are described: (1) image-based modelling using a non-metric hand-held camera; (2) 3D visualization based on spherical panoramic images; (3) and 3D geometric and photorealistic modelling based on architectural CAD drawings. Their suitability for web-based visualization are demonstrated and compared. Moreover the possibilities for integration with additional information such as interactive maps, satellite imagery, sound, video and specific information for the objects are described. This comparative study

Using Interactive Data Visualizations for Exploratory Analysis in Undergraduate Genomics Coursework: Field Study Findings and Guidelines

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Kumar, Anuj; Nong, Paige; Su, Gang; Meng, Fan

2016-01-01

Life scientists increasingly use visual analytics to explore large data sets and generate hypotheses. Undergraduate biology majors should be learning these same methods. Yet visual analytics is one of the most underdeveloped areas of undergraduate biology education. This study sought to determine the feasibility of undergraduate biology majors conducting exploratory analysis using the same interactive data visualizations as practicing scientists. We examined 22 upper level undergraduates in a genomics course as they engaged in a case-based inquiry with an interactive heat map. We qualitatively and quantitatively analyzed students’ visual analytic behaviors, reasoning and outcomes to identify student performance patterns, commonly shared efficiencies and task completion. We analyzed students’ successes and difficulties in applying knowledge and skills relevant to the visual analytics case and related gaps in knowledge and skill to associated tool designs. Findings show that undergraduate engagement in visual analytics is feasible and could be further strengthened through tool usability improvements. We identify these improvements. We speculate, as well, on instructional considerations that our findings suggested may also enhance visual analytics in case-based modules. PMID:26877625

Interactive visualization of a thin disc around a Schwarzschild black hole

International Nuclear Information System (INIS)

Müller, Thomas; Frauendiener, Jörg

2012-01-01

In a first course in general relativity, the Schwarzschild spacetime is the most discussed analytic solution to Einstein's field equations. Unfortunately, there is rarely enough time to study the optical consequences of the bending of light for some advanced examples. In this paper, we present how the visual appearance of a thin disc around a Schwarzschild black hole can be determined interactively by means of an analytic solution to the geodesic equation processed on current high-performance graphical processing units. This approach can, in principle, be customized for any other thin disc in a spacetime with geodesics given in closed form. The interactive visualization discussed here can be used either in a first course in general relativity for demonstration purposes only or as a thesis for an enthusiastic student in an advanced course with some basic knowledge of OpenGL and a programming language. (paper)

Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs

International Nuclear Information System (INIS)

Savas, Sevtap; Ozcelik, Hilmi

2005-01-01

Phosphorylation is a reversible post-translational modification that affects the intrinsic properties of proteins, such as structure and function. Non-synonymous single nucleotide polymorphisms (nsSNPs) result in the substitution of the encoded amino acids and thus are likely to alter the phosphorylation motifs in the proteins. In this study, we used the web-based NetPhos tool to predict candidate nsSNPs that either introduce or remove putative phosphorylation sites in proteins that act in DNA repair and cell cycle pathways. Our results demonstrated that a total of 15 nsSNPs (16.9%) were likely to alter the putative phosphorylation patterns of 14 proteins. Three of these SNPs (CDKN1A-S31R, OGG1-S326C, and XRCC3-T241M) have already found to be associated with altered cancer risk. We believe that this set of nsSNPs constitutes an excellent resource for further molecular and genetic analyses. The novel systematic approach used in this study will accelerate the understanding of how naturally occurring human SNPs may alter protein function through the modification of phosphorylation mechanisms and contribute to disease susceptibility

Interactive Visualization and Analysis of Geospatial Data Sets - TrikeND-iGlobe

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Rosebrock, Uwe; Hogan, Patrick; Chandola, Varun

2013-04-01

The visualization of scientific datasets is becoming an ever-increasing challenge as advances in computing technologies have enabled scientists to build high resolution climate models that have produced petabytes of climate data. To interrogate and analyze these large datasets in real-time is a task that pushes the boundaries of computing hardware and software. But integration of climate datasets with geospatial data requires considerable amount of effort and close familiarity of various data formats and projection systems, which has prevented widespread utilization outside of climate community. TrikeND-iGlobe is a sophisticated software tool that bridges this gap, allows easy integration of climate datasets with geospatial datasets and provides sophisticated visualization and analysis capabilities. The objective for TrikeND-iGlobe is the continued building of an open source 4D virtual globe application using NASA World Wind technology that integrates analysis of climate model outputs with remote sensing observations as well as demographic and environmental data sets. This will facilitate a better understanding of global and regional phenomenon, and the impact analysis of climate extreme events. The critical aim is real-time interactive interrogation. At the data centric level the primary aim is to enable the user to interact with the data in real-time for the purpose of analysis - locally or remotely. TrikeND-iGlobe provides the basis for the incorporation of modular tools that provide extended interactions with the data, including sub-setting, aggregation, re-shaping, time series analysis methods and animation to produce publication-quality imagery. TrikeND-iGlobe may be run locally or can be accessed via a web interface supported by high-performance visualization compute nodes placed close to the data. It supports visualizing heterogeneous data formats: traditional geospatial datasets along with scientific data sets with geographic coordinates (NetCDF, HDF, etc

A comparison between genotyping-by-sequencing and array-based scoring of SNPs for genomic prediction accuracy in winter wheat.

Science.gov (United States)

Elbasyoni, Ibrahim S; Lorenz, A J; Guttieri, M; Frels, K; Baenziger, P S; Poland, J; Akhunov, E

2018-05-01

The utilization of DNA molecular markers in plant breeding to maximize selection response via marker-assisted selection (MAS) and genomic selection (GS) has revolutionized plant breeding. A key factor affecting GS applicability is the choice of molecular marker platform. Genotyping-by-sequencing scored SNPs (GBS-scored SNPs) provides a large number of markers, albeit with high rates of missing data. Array scored SNPs are of high quality, but the cost per sample is substantially higher. The objectives of this study were 1) compare GBS-scored SNPs, and array scored SNPs for genomic selection applications, and 2) compare estimates of genomic kinship and population structure calculated using the two marker platforms. SNPs were compared in a diversity panel consisting of 299 hard winter wheat (Triticum aestivum L.) accessions that were part of a multi-year, multi-environments association mapping study. The panel was phenotyped in Ithaca, Nebraska for heading date, plant height, days to physiological maturity and grain yield in 2012 and 2013. The panel was genotyped using GBS-scored SNPs, and array scored SNPs. Results indicate that GBS-scored SNPs is comparable to or better than Array-scored SNPs for genomic prediction application. Both platforms identified the same genetic patterns in the panel where 90% of the lines were classified to common genetic groups. Overall, we concluded that GBS-scored SNPs have the potential to be the marker platform of choice for genetic diversity and genomic selection in winter wheat. Copyright © 2018 Elsevier B.V. All rights reserved.

Mental practice with interactive 3D visual aids enhances surgical performance.

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Yiasemidou, Marina; Glassman, Daniel; Mushtaq, Faisal; Athanasiou, Christos; Williams, Mark-Mon; Jayne, David; Miskovic, Danilo

2017-10-01

Evidence suggests that Mental Practice (MP) could be used to finesse surgical skills. However, MP is cognitively demanding and may be dependent on the ability of individuals to produce mental images. In this study, we hypothesised that the provision of interactive 3D visual aids during MP could facilitate surgical skill performance. 20 surgical trainees were case-matched to one of three different preparation methods prior to performing a simulated Laparoscopic Cholecystectomy (LC). Two intervention groups underwent a 25-minute MP session; one with interactive 3D visual aids depicting the relevant surgical anatomy (3D-MP group, n = 5) and one without (MP-Only, n = 5). A control group (n = 10) watched a didactic video of a real LC. Scores relating to technical performance and safety were recorded by a surgical simulator. The Control group took longer to complete the procedure relative to the 3D&MP condition (p = .002). The number of movements was also statistically different across groups (p = .001), with the 3D&MP group making fewer movements relative to controls (p = .001). Likewise, the control group moved further in comparison to the 3D&MP condition and the MP-Only condition (p = .004). No reliable differences were observed for safety metrics. These data provide evidence for the potential value of MP in improving performance. Furthermore, they suggest that 3D interactive visual aids during MP could potentially enhance performance, beyond the benefits of MP alone. These findings pave the way for future RCTs on surgical preparation and performance.

A custom correlation coefficient (CCC) approach for fast identification of multi-SNP association patterns in genome-wide SNPs data.

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Climer, Sharlee; Yang, Wei; de las Fuentes, Lisa; Dávila-Román, Victor G; Gu, C Charles

2014-11-01

Complex diseases are often associated with sets of multiple interacting genetic factors and possibly with unique sets of the genetic factors in different groups of individuals (genetic heterogeneity). We introduce a novel concept of custom correlation coefficient (CCC) between single nucleotide polymorphisms (SNPs) that address genetic heterogeneity by measuring subset correlations autonomously. It is used to develop a 3-step process to identify candidate multi-SNP patterns: (1) pairwise (SNP-SNP) correlations are computed using CCC; (2) clusters of so-correlated SNPs identified; and (3) frequencies of these clusters in disease cases and controls compared to identify disease-associated multi-SNP patterns. This method identified 42 candidate multi-SNP associations with hypertensive heart disease (HHD), among which one cluster of 22 SNPs (six genes) included 13 in SLC8A1 (aka NCX1, an essential component of cardiac excitation-contraction coupling) and another of 32 SNPs had 29 from a different segment of SLC8A1. While allele frequencies show little difference between cases and controls, the cluster of 22 associated alleles were found in 20% of controls but no cases and the other in 3% of controls but 20% of cases. These suggest that both protective and risk effects on HHD could be exerted by combinations of variants in different regions of SLC8A1, modified by variants from other genes. The results demonstrate that this new correlation metric identifies disease-associated multi-SNP patterns overlooked by commonly used correlation measures. Furthermore, computation time using CCC is a small fraction of that required by other methods, thereby enabling the analyses of large GWAS datasets. © 2014 WILEY PERIODICALS, INC.

Transcranial direct current stimulation (tDCS) facilitates overall visual search response times but does not interact with visual search task factors.

Science.gov (United States)

Sung, Kyongje; Gordon, Barry

2018-01-01

Whether transcranial direct current stimulation (tDCS) affects mental functions, and how any such effects arise from its neural effects, continue to be debated. We investigated whether tDCS applied over the visual cortex (Oz) with a vertex (Cz) reference might affect response times (RTs) in a visual search task. We also examined whether any significant tDCS effects would interact with task factors (target presence, discrimination difficulty, and stimulus brightness) that are known to selectively influence one or the other of the two information processing stages posited by current models of visual search. Based on additive factor logic, we expected that the pattern of interactions involving a significant tDCS effect could help us colocalize the tDCS effect to one (or both) of the processing stages. In Experiment 1 (n = 12), anodal tDCS improved RTs significantly; cathodal tDCS produced a nonsignificant trend toward improvement. However, there were no interactions between the anodal tDCS effect and target presence or discrimination difficulty. In Experiment 2 (n = 18), we manipulated stimulus brightness along with target presence and discrimination difficulty. Anodal and cathodal tDCS both produced significant improvements in RTs. Again, the tDCS effects did not interact with any of the task factors. In Experiment 3 (n = 16), electrodes were placed at Cz and on the upper arm, to test for a possible effect of incidental stimulation of the motor regions under Cz. No effect of tDCS on RTs was found. These findings strengthen the case for tDCS having real effects on cerebral information processing. However, these effects did not clearly arise from either of the two processing stages of the visual search process. We suggest that this is because tDCS has a DIFFUSE, pervasive action across the task-relevant neuroanatomical region(s), not a discrete effect in terms of information processing stages.

DEVELOPING VISUAL NOVEL GAME WITH SPEECH-RECOGNITION INTERACTIVITY TO ENHANCE STUDENTS’ MASTERY ON ENGLISH EXPRESSIONS

Directory of Open Access Journals (Sweden)

Elizabeth Anggraeni Amalo

2017-11-01

Full Text Available The teaching of English-expressions has always been done through conversation samples in form of written texts, audio recordings, and videos. In the meantime, the development of computer-aided learning technology has made autonomous language learning possible. Game, as one of computer-aided learning technology products, can serve as a medium to provide educational contents like that of language teaching and learning. Visual Novel is considered as a conversational game that is suitable to be combined with English-expressions material. Unlike the other click-based interaction Visual Novel Games, the visual novel game in this research implements speech recognition as the interaction trigger. Hence, this paper aims at elaborating how visual novel games are utilized to deliver English-expressions with speech recognition command for the interaction. This research used Research and Development (R&D method with Experimental design through control and experimental groups to measure its effectiveness in enhancing students’ English-expressions mastery. ANOVA was utilized to prove the significant differences between the control and experimental groups. It is expected that the result of this development and experiment can devote benefits to the English teaching and learning, especially on English-expressions.

XCluSim: a visual analytics tool for interactively comparing multiple clustering results of bioinformatics data

Science.gov (United States)

2015-01-01

Background Though cluster analysis has become a routine analytic task for bioinformatics research, it is still arduous for researchers to assess the quality of a clustering result. To select the best clustering method and its parameters for a dataset, researchers have to run multiple clustering algorithms and compare them. However, such a comparison task with multiple clustering results is cognitively demanding and laborious. Results In this paper, we present XCluSim, a visual analytics tool that enables users to interactively compare multiple clustering results based on the Visual Information Seeking Mantra. We build a taxonomy for categorizing existing techniques of clustering results visualization in terms of the Gestalt principles of grouping. Using the taxonomy, we choose the most appropriate interactive visualizations for presenting individual clustering results from different types of clustering algorithms. The efficacy of XCluSim is shown through case studies with a bioinformatician. Conclusions Compared to other relevant tools, XCluSim enables users to compare multiple clustering results in a more scalable manner. Moreover, XCluSim supports diverse clustering algorithms and dedicated visualizations and interactions for different types of clustering results, allowing more effective exploration of details on demand. Through case studies with a bioinformatics researcher, we received positive feedback on the functionalities of XCluSim, including its ability to help identify stably clustered items across multiple clustering results. PMID:26328893

VIGOR: Interactive Visual Exploration of Graph Query Results.

Science.gov (United States)

Pienta, Robert; Hohman, Fred; Endert, Alex; Tamersoy, Acar; Roundy, Kevin; Gates, Chris; Navathe, Shamkant; Chau, Duen Horng

2018-01-01

Finding patterns in graphs has become a vital challenge in many domains from biological systems, network security, to finance (e.g., finding money laundering rings of bankers and business owners). While there is significant interest in graph databases and querying techniques, less research has focused on helping analysts make sense of underlying patterns within a group of subgraph results. Visualizing graph query results is challenging, requiring effective summarization of a large number of subgraphs, each having potentially shared node-values, rich node features, and flexible structure across queries. We present VIGOR, a novel interactive visual analytics system, for exploring and making sense of query results. VIGOR uses multiple coordinated views, leveraging different data representations and organizations to streamline analysts sensemaking process. VIGOR contributes: (1) an exemplar-based interaction technique, where an analyst starts with a specific result and relaxes constraints to find other similar results or starts with only the structure (i.e., without node value constraints), and adds constraints to narrow in on specific results; and (2) a novel feature-aware subgraph result summarization. Through a collaboration with Symantec, we demonstrate how VIGOR helps tackle real-world problems through the discovery of security blindspots in a cybersecurity dataset with over 11,000 incidents. We also evaluate VIGOR with a within-subjects study, demonstrating VIGOR's ease of use over a leading graph database management system, and its ability to help analysts understand their results at higher speed and make fewer errors.

DyNet: visualization and analysis of dynamic molecular interaction networks.

Science.gov (United States)

Goenawan, Ivan H; Bryan, Kenneth; Lynn, David J

2016-09-01

: The ability to experimentally determine molecular interactions on an almost proteome-wide scale under different conditions is enabling researchers to move from static to dynamic network analysis, uncovering new insights into how interaction networks are physically rewired in response to different stimuli and in disease. Dynamic interaction data presents a special challenge in network biology. Here, we present DyNet, a Cytoscape application that provides a range of functionalities for the visualization, real-time synchronization and analysis of large multi-state dynamic molecular interaction networks enabling users to quickly identify and analyze the most 'rewired' nodes across many network states. DyNet is available at the Cytoscape (3.2+) App Store (http://apps.cytoscape.org/apps/dynet). david.lynn@sahmri.com Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press.

A Novel Framework for Interactive Visualization and Analysis of Hyperspectral Image Data

Directory of Open Access Journals (Sweden)

Johannes Jordan

2016-01-01

Full Text Available Multispectral and hyperspectral images are well established in various fields of application like remote sensing, astronomy, and microscopic spectroscopy. In recent years, the availability of new sensor designs, more powerful processors, and high-capacity storage further opened this imaging modality to a wider array of applications like medical diagnosis, agriculture, and cultural heritage. This necessitates new tools that allow general analysis of the image data and are intuitive to users who are new to hyperspectral imaging. We introduce a novel framework that bundles new interactive visualization techniques with powerful algorithms and is accessible through an efficient and intuitive graphical user interface. We visualize the spectral distribution of an image via parallel coordinates with a strong link to traditional visualization techniques, enabling new paradigms in hyperspectral image analysis that focus on interactive raw data exploration. We combine novel methods for supervised segmentation, global clustering, and nonlinear false-color coding to assist in the visual inspection. Our framework coined Gerbil is open source and highly modular, building on established methods and being easily extensible for application-specific needs. It satisfies the need for a general, consistent software framework that tightly integrates analysis algorithms with an intuitive, modern interface to the raw image data and algorithmic results. Gerbil finds its worldwide use in academia and industry alike with several thousand downloads originating from 45 countries.

An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population.

Directory of Open Access Journals (Sweden)

Alexandre Montpetit

2006-03-01

Full Text Available The Haplotype Map (HapMap project recently generated genotype data for more than 1 million single-nucleotide polymorphisms (SNPs in four population samples. The main application of the data is in the selection of tag single-nucleotide polymorphisms (tSNPs to use in association studies. The usefulness of this selection process needs to be verified in populations outside those used for the HapMap project. In addition, it is not known how well the data represent the general population, as only 90-120 chromosomes were used for each population and since the genotyped SNPs were selected so as to have high frequencies. In this study, we analyzed more than 1,000 individuals from Estonia. The population of this northern European country has been influenced by many different waves of migrations from Europe and Russia. We genotyped 1,536 randomly selected SNPs from two 500-kbp ENCODE regions on Chromosome 2. We observed that the tSNPs selected from the CEPH (Centre d'Etude du Polymorphisme Humain from Utah (CEU HapMap samples (derived from US residents with northern and western European ancestry captured most of the variation in the Estonia sample. (Between 90% and 95% of the SNPs with a minor allele frequency of more than 5% have an r2 of at least 0.8 with one of the CEU tSNPs. Using the reverse approach, tags selected from the Estonia sample could almost equally well describe the CEU sample. Finally, we observed that the sample size, the allelic frequency, and the SNP density in the dataset used to select the tags each have important effects on the tagging performance. Overall, our study supports the use of HapMap data in other Caucasian populations, but the SNP density and the bias towards high-frequency SNPs have to be taken into account when designing association studies.

Interaction between LRP5 and periostin gene polymorphisms on serum periostin levels and cortical bone microstructure.

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Pepe, J; Bonnet, N; Herrmann, F R; Biver, E; Rizzoli, R; Chevalley, T; Ferrari, S L

2018-02-01

We investigated the interaction between periostin SNPs and the SNPs of the genes assumed to modulate serum periostin levels and bone microstructure in a cohort of postmenopausal women. We identified an interaction between LRP5 SNP rs648438 and periostin SNP rs9547970 on serum periostin levels and on radial cortical porosity. The purpose of this study is to investigate the interaction between periostin gene polymorphisms (SNPs) and other genes potentially responsible for modulating serum periostin levels and bone microstructure in a cohort of postmenopausal women. In 648 postmenopausal women from the Geneva Retirees Cohort, we analyzed 6 periostin SNPs and another 149 SNPs in 14 genes, namely BMP2, CTNNB1, ESR1, ESR2, LRP5, LRP6, PTH, SPTBN1, SOST, TGFb1, TNFRSF11A, TNFSF11, TNFRSF11B and WNT16. Volumetric BMD and bone microstructure were measured by high-resolution peripheral quantitative computed tomography at the distal radius and tibia. Serum periostin levels were associated with radial cortical porosity, including after adjustment for age, BMI, and years since menopause (p = 0.036). Sixteen SNPs in the ESR1, LRP5, TNFRSF11A, SOST, SPTBN1, TNFRSF11B and TNFSF11 genes were associated with serum periostin levels (p range 0.03-0.001) whereas 26 SNPs in 9 genes were associated with cortical porosity at the radius and/or at the tibia. WNT 16 was the gene with the highest number of SNPs associated with both trabecular and cortical microstructure. The periostin SNP rs9547970 was also associated with cortical porosity (p = 0.04). In particular, SNPs in LRP5, ESR1 and near the TNFRSF11A gene were associated with both cortical porosity and serum periostin levels. Eventually, we identified an interaction between LRP5 SNP rs648438 and periostin SNP rs9547970 on serum periostin levels (interaction p = 0.01) and on radial cortical porosity (interaction p = 0.005). These results suggest that periostin expression is genetically modulated, particularly by polymorphisms

QuIN: A Web Server for Querying and Visualizing Chromatin Interaction Networks.

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Asa Thibodeau

2016-06-01

Full Text Available Recent studies of the human genome have indicated that regulatory elements (e.g. promoters and enhancers at distal genomic locations can interact with each other via chromatin folding and affect gene expression levels. Genomic technologies for mapping interactions between DNA regions, e.g., ChIA-PET and HiC, can generate genome-wide maps of interactions between regulatory elements. These interaction datasets are important resources to infer distal gene targets of non-coding regulatory elements and to facilitate prioritization of critical loci for important cellular functions. With the increasing diversity and complexity of genomic information and public ontologies, making sense of these datasets demands integrative and easy-to-use software tools. Moreover, network representation of chromatin interaction maps enables effective data visualization, integration, and mining. Currently, there is no software that can take full advantage of network theory approaches for the analysis of chromatin interaction datasets. To fill this gap, we developed a web-based application, QuIN, which enables: 1 building and visualizing chromatin interaction networks, 2 annotating networks with user-provided private and publicly available functional genomics and interaction datasets, 3 querying network components based on gene name or chromosome location, and 4 utilizing network based measures to identify and prioritize critical regulatory targets and their direct and indirect interactions.QuIN's web server is available at http://quin.jax.org QuIN is developed in Java and JavaScript, utilizing an Apache Tomcat web server and MySQL database and the source code is available under the GPLV3 license available on GitHub: https://github.com/UcarLab/QuIN/.

QuIN: A Web Server for Querying and Visualizing Chromatin Interaction Networks.

Science.gov (United States)

Thibodeau, Asa; Márquez, Eladio J; Luo, Oscar; Ruan, Yijun; Menghi, Francesca; Shin, Dong-Guk; Stitzel, Michael L; Vera-Licona, Paola; Ucar, Duygu

2016-06-01

Recent studies of the human genome have indicated that regulatory elements (e.g. promoters and enhancers) at distal genomic locations can interact with each other via chromatin folding and affect gene expression levels. Genomic technologies for mapping interactions between DNA regions, e.g., ChIA-PET and HiC, can generate genome-wide maps of interactions between regulatory elements. These interaction datasets are important resources to infer distal gene targets of non-coding regulatory elements and to facilitate prioritization of critical loci for important cellular functions. With the increasing diversity and complexity of genomic information and public ontologies, making sense of these datasets demands integrative and easy-to-use software tools. Moreover, network representation of chromatin interaction maps enables effective data visualization, integration, and mining. Currently, there is no software that can take full advantage of network theory approaches for the analysis of chromatin interaction datasets. To fill this gap, we developed a web-based application, QuIN, which enables: 1) building and visualizing chromatin interaction networks, 2) annotating networks with user-provided private and publicly available functional genomics and interaction datasets, 3) querying network components based on gene name or chromosome location, and 4) utilizing network based measures to identify and prioritize critical regulatory targets and their direct and indirect interactions. QuIN's web server is available at http://quin.jax.org QuIN is developed in Java and JavaScript, utilizing an Apache Tomcat web server and MySQL database and the source code is available under the GPLV3 license available on GitHub: https://github.com/UcarLab/QuIN/.

MEVA--An Interactive Visualization Application for Validation of Multifaceted Meteorological Data with Multiple 3D Devices.

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Carolin Helbig

Full Text Available To achieve more realistic simulations, meteorologists develop and use models with increasing spatial and temporal resolution. The analyzing, comparing, and visualizing of resulting simulations becomes more and more challenging due to the growing amounts and multifaceted character of the data. Various data sources, numerous variables and multiple simulations lead to a complex database. Although a variety of software exists suited for the visualization of meteorological data, none of them fulfills all of the typical domain-specific requirements: support for quasi-standard data formats and different grid types, standard visualization techniques for scalar and vector data, visualization of the context (e.g., topography and other static data, support for multiple presentation devices used in modern sciences (e.g., virtual reality, a user-friendly interface, and suitability for cooperative work.Instead of attempting to develop yet another new visualization system to fulfill all possible needs in this application domain, our approach is to provide a flexible workflow that combines different existing state-of-the-art visualization software components in order to hide the complexity of 3D data visualization tools from the end user. To complete the workflow and to enable the domain scientists to interactively visualize their data without advanced skills in 3D visualization systems, we developed a lightweight custom visualization application (MEVA - multifaceted environmental data visualization application that supports the most relevant visualization and interaction techniques and can be easily deployed. Specifically, our workflow combines a variety of different data abstraction methods provided by a state-of-the-art 3D visualization application with the interaction and presentation features of a computer-games engine. Our customized application includes solutions for the analysis of multirun data, specifically with respect to data uncertainty and

Genotyping of Brucella species using clade specific SNPs

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Foster Jeffrey T

2012-06-01

Full Text Available Abstract Background Brucellosis is a worldwide disease of mammals caused by Alphaproteobacteria in the genus Brucella. The genus is genetically monomorphic, requiring extensive genotyping to differentiate isolates. We utilized two different genotyping strategies to characterize isolates. First, we developed a microarray-based assay based on 1000 single nucleotide polymorphisms (SNPs that were identified from whole genome comparisons of two B. abortus isolates , one B. melitensis, and one B. suis. We then genotyped a diverse collection of 85 Brucella strains at these SNP loci and generated a phylogenetic tree of relationships. Second, we developed a selective primer-extension assay system using capillary electrophoresis that targeted 17 high value SNPs across 8 major branches of the phylogeny and determined their genotypes in a large collection ( n = 340 of diverse isolates. Results Our 1000 SNP microarray readily distinguished B. abortus, B. melitensis, and B. suis, differentiating B. melitensis and B. suis into two clades each. Brucella abortus was divided into four major clades. Our capillary-based SNP genotyping confirmed all major branches from the microarray assay and assigned all samples to defined lineages. Isolates from these lineages and closely related isolates, among the most commonly encountered lineages worldwide, can now be quickly and easily identified and genetically characterized. Conclusions We have identified clade-specific SNPs in Brucella that can be used for rapid assignment into major groups below the species level in the three main Brucella species. Our assays represent SNP genotyping approaches that can reliably determine the evolutionary relationships of bacterial isolates without the need for whole genome sequencing of all isolates.

Fiscal 1999 research achievement report on the development of SNPs related technologies; 1999 nendo SNPs kanren gijutsu kaihatsu seika hokokusho

Energy Technology Data Exchange (ETDEWEB)

NONE

2001-03-01

Efforts are made to develop specimen processing technologies for modifying and enabling various kinds of specimens to automatically undergo SNP (single nucleotide polymorphism) analysis for medicine development and clinical diagnostic activities and to develop technologies and apparatuses to enable rapid, inexpensive, and simple search and analysis of SNPs using DNA (deoxyribonucleic acid) chips and mass spectrometry. Activities are conducted in the four fields involving (1) the development of a practical clinical system for rapid detection and analysis of SNPs, (2) research and development of an SNP scoring system using bar-coded oligonucleotides and magnetic beads, (3) research and development of a high-speed SNP analysis system using a mass spectrometer, and (4) the development of a high throughput SNP analysis line. Efforts exerted in field (1) involve a protein fixation method using plasma polymerization and its application to DNA arrays, development of an SNP detection method using human genomes, construction of a rapid DNA detection device using an electric field, development of an SNP analysis system using the solid phase HPA (hybridization protection assay) method, and SNP analysis using solid phase ligation. (NEDO)

Formulating qualitative features using interactive visualization for analysis of multivariate spatiotemporal data

Science.gov (United States)

Porter, M.; Hill, M. C.; Pierce, S. A.; Gil, Y.; Pennington, D. D.

2017-12-01

DiscoverWater is a web-based visualization tool developed to enable the visual representation of data, and thus, aid scientific and societal understanding of hydrologic systems. Open data sources are coalesced to, for example, illustrate the impacts on streamflow of irrigation withdrawals. Scientists and stakeholders are informed through synchronized time-series data plots that correlate multiple spatiotemporal datasets and an interactive time-evolving map that provides a spatial analytical context. Together, these components elucidate trends so that the user can try to envision the relations between groundwater-surface water interactions, the impacts of pumping on these interactions, and the interplay of climate. Aligning data in this manner has the capacity for interdisciplinary knowledge discovery and motivates dialogue about system processes that we seek to enhance through qualitative features informed through quantitative models. DiscoverWater and its connection is demonstrated using two field cases. First, it is used to visualize data sets from the High Plains aquifer, where reservoir- and groundwater-supported irrigation has affected the Arkansas River in western Kansas. Second, data and model results from Barton Springs segment of the Edwards aquifer in Texas reveal the effects of regional pumping on this important urbanizing aquifer system. Identifying what is interesting about the data and the modeled system in the two different case studies is a step towards moving typically static visualization capabilities to an adaptive framework. Additionally, the dashboard interface incorporates both quantitative and qualitative information about distinctive case studies in a machine-readable form, such that a catalog of qualitative models can capture subject matter expertise alongside associated datasets. As the catalog is expanded to include other case studies, the collection has potential to establish a standard framework able to inform intelligent system

Neuropeptide Y gene-by-psychosocial stress interaction effect is associated with obesity in a Korean population.

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Kim, Hyun-Jin; Min, Kyoung-Bok; Min, Jin-Young

2016-07-01

Chronic psychosocial stress is a crucial risk factor in the development of many diseases including obesity. Neuropeptide Y (NPY), distributed throughout the peripheral and central nervous system, is believed to pay a role in the pathophysiologic relationship between stress and obesity. Although several animal studies have investigated the impact on obesity of interactions between NPY single nucleotide polymorphisms (SNPs) and stress, the same remains to be analyzed in humans. To identify NPY gene-by-stress interaction effects on human obesity, we analyzed the interaction between four NPY SNPs and stress with obesity-related traits, including visceral adipose tissue (VAT). A total of 1468 adult subjects were included for this analysis. In a SNP-only model without interaction with stress, no significant SNPs were found (pSNP>0.05). However, NPY SNPs-by-stress interaction effects were significantly linked to body mass index (BMI), waist circumference, and VAT (pintobesity. Among the obesity traits, mean changes of VAT by increased stress levels in homozygous risk allele carriers were the greatest (range of mean increases for four SNPs (min-max)=12.57cm(2)-29.86cm(2)). This study suggests that common polymorphisms for NPY were associated with human obesity by interacting with psychosocial stress, emphasizing the need for stress management in obesity prevention. Copyright © 2016 Elsevier Ltd. All rights reserved.

Optimisation and validation of methods to assess single nucleotide polymorphisms (SNPs) in archival histological material

DEFF Research Database (Denmark)

Andreassen, C N; Sørensen, Flemming Brandt; Overgaard

2004-01-01

only archival specimens are available. This study was conducted to validate protocols optimised for assessment of SNPs based on paraffin embedded, formalin fixed tissue samples.PATIENTS AND METHODS: In 137 breast cancer patients, three TGFB1 SNPs were assessed based on archival histological specimens...... precipitation).RESULTS: Assessment of SNPs based on archival histological material is encumbered by a number of obstacles and pitfalls. However, these can be widely overcome by careful optimisation of the methods used for sample selection, DNA extraction and PCR. Within 130 samples that fulfil the criteria...

Mining the 30UTR of Autism-implicated Genes for SNPs Perturbing MicroRNA Regulation

Institute of Scientific and Technical Information of China (English)

Varadharajan Vaishnavi; Mayakannan Manikandan; Arasambattu Kannan Munirajan

2014-01-01

Autism spectrum disorder (ASD) refers to a group of childhood neurodevelopmental dis-orders with polygenic etiology. The expression of many genes implicated in ASD is tightly regulated by various factors including microRNAs (miRNAs), a class of noncoding RNAs 22 nucleotides in length that function to suppress translation by pairing with‘miRNA recognition elements’ (MREs) present in the 30untranslated region (30UTR) of target mRNAs. This emphasizes the role played by miRNAs in regulating neurogenesis, brain development and differentiation and hence any perturba-tions in this regulatory mechanism might affect these processes as well. Recently, single nucleotide polymorphisms (SNPs) present within 30UTRs of mRNAs have been shown to modulate existing MREs or even create new MREs. Therefore, we hypothesized that SNPs perturbing miRNA-medi-ated gene regulation might lead to aberrant expression of autism-implicated genes, thus resulting in disease predisposition or pathogenesis in at least a subpopulation of ASD individuals. We developed a systematic computational pipeline that integrates data from well-established databases. By following a stringent selection criterion, we identified 9 MRE-modulating SNPs and another 12 MRE-creating SNPs in the 30UTR of autism-implicated genes. These high-confidence candidate SNPs may play roles in ASD and hence would be valuable for further functional validation.

In-silico analysis of non-synonymous-SNPs of STEAP2: To provoke the progression of prostate cancer

Directory of Open Access Journals (Sweden)

Naveed Muhammad

2016-01-01

Full Text Available As a novel biomarker from the STEAP family, STEAP2 encodes six transmembrane epithelial antigens to prostate cancer. The overexpression of STEAP2 is predicted as the second most common cancer in the world that is responsible for male cancer-related deaths. Nonsynonymous SNPs are important group of SNPs which lead to alternations in encoded polypeptides. Changes in the amino acid sequence of gene products can lead to abnormal tissue function. The present study firstly sorted out those SNPs which exist in the coding region of STEAP2 and evaluated their impact through computational tools. Secondly, the three-dimensional structure of STEAP2 was formed through I-TASSER and validated by different software. Genomic data has been retrieved from the 1000 Genome project and Ensembl and subsequently analysed using computational tools. Out of 177 non-synonymous single nucleotide polymorphisms (nsSNPs within the coding region, 42 mis-sense SNPs have been predicted as deleterious by all analyses. Our research shows a welldesigned computational methodology to inspect the prostate cancer associated nsSNPs. It can be concluded that these nsSNPs can play their role in the up-regulation of STEAP2 which further leads to progression of prostate cancer. It can benefit scientists in the handling of cancerassociated diseases related to STEAP2 through developing novel drug therapies.

Dynamic adjustments in frontal, hippocampal, and inferior temporal interactions with increasing visual working memory load

OpenAIRE

Rissman, Jesse; Gazzaley, Adam; D’Esposito, Mark

2007-01-01

The active maintenance of visual stimuli across a delay interval in working memory tasks is thought to involve reverberant neural communication between the prefrontal cortex and posterior visual association areas. The hippocampus has also recently been attributed a role in this retention process, presumably via its reciprocal connectivity with visual regions. To characterize the nature of these inter-regional interactions, we applied a recently developed functional connectivity analysis metho...

Visual analytics of geo-social interaction patterns for epidemic control.

Science.gov (United States)

Luo, Wei

2016-08-10

Human interaction and population mobility determine the spatio-temporal course of the spread of an airborne disease. This research views such spreads as geo-social interaction problems, because population mobility connects different groups of people over geographical locations via which the viruses transmit. Previous research argued that geo-social interaction patterns identified from population movement data can provide great potential in designing effective pandemic mitigation. However, little work has been done to examine the effectiveness of designing control strategies taking into account geo-social interaction patterns. To address this gap, this research proposes a new framework for effective disease control; specifically this framework proposes that disease control strategies should start from identifying geo-social interaction patterns, designing effective control measures accordingly, and evaluating the efficacy of different control measures. This framework is used to structure design of a new visual analytic tool that consists of three components: a reorderable matrix for geo-social mixing patterns, agent-based epidemic models, and combined visualization methods. With real world human interaction data in a French primary school as a proof of concept, this research compares the efficacy of vaccination strategies between the spatial-social interaction patterns and the whole areas. The simulation results show that locally targeted vaccination has the potential to keep infection to a small number and prevent spread to other regions. At some small probability, the local control strategies will fail; in these cases other control strategies will be needed. This research further explores the impact of varying spatial-social scales on the success of local vaccination strategies. The results show that a proper spatial-social scale can help achieve the best control efficacy with a limited number of vaccines. The case study shows how GS-EpiViz does support the design

The selective interaction between silica nanoparticles and enzymes from molecular dynamics simulations.

Directory of Open Access Journals (Sweden)

Xiaotian Sun

Full Text Available Nanoscale particles have become promising materials in many fields, such as cancer therapeutics, diagnosis, imaging, drug delivery, catalysis, as well as biosensors. In order to stimulate and facilitate these applications, there is an urgent need for the understanding of the interaction mode between the nano-particles and proteins. In this study, we investigate the orientation and adsorption between several enzymes (cytochrome c, RNase A, lysozyme and 4 nm/11 nm silica nanoparticles (SNPs by using molecular dynamics (MD simulation. Our results show that three enzymes are adsorbed onto the surfaces of both 4 nm and 11 nm SNPs during our MD simulations and the small SNPs induce greater structural stabilization. The active site of cytochrome c is far away from the surface of 4 nm SNPs, while it is adsorbed onto the surface of 11 nm SNPs. We also explore the influences of different groups (-OH, -COOH, -NH2 and CH3 coated onto silica nanoparticles, which show significantly different impacts. Our molecular dynamics results indicate the selective interaction between silicon nanoparticles and enzymes, which is consistent with experimental results. Our study provides useful guides for designing/modifying nanomaterials to interact with proteins for their bio-applications.

BioCircos.js: an interactive Circos JavaScript library for biological data visualization on web applications.

Science.gov (United States)

Cui, Ya; Chen, Xiaowei; Luo, Huaxia; Fan, Zhen; Luo, Jianjun; He, Shunmin; Yue, Haiyan; Zhang, Peng; Chen, Runsheng

2016-06-01

We here present BioCircos.js, an interactive and lightweight JavaScript library especially for biological data interactive visualization. BioCircos.js facilitates the development of web-based applications for circular visualization of various biological data, such as genomic features, genetic variations, gene expression and biomolecular interactions. BioCircos.js and its manual are freely available online at http://bioinfo.ibp.ac.cn/biocircos/ rschen@ibp.ac.cn Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

SNP2Structure: A Public and Versatile Resource for Mapping and Three-Dimensional Modeling of Missense SNPs on Human Protein Structures

Directory of Open Access Journals (Sweden)

Difei Wang

2015-01-01

Full Text Available One of the long-standing challenges in biology is to understand how non-synonymous single nucleotide polymorphisms (nsSNPs change protein structure and further affect their function. While it is impractical to solve all the mutated protein structures experimentally, it is quite feasible to model the mutated structures in silico. Toward this goal, we built a publicly available structure database resource (SNP2Structure, https://apps.icbi.georgetown.edu/snp2structure focusing on missense mutations, msSNP. Compared with web portals with similar aims, SNP2Structure has the following major advantages. First, our portal offers direct comparison of two related 3D structures. Second, the protein models include all interacting molecules in the original PDB structures, so users are able to determine regions of potential interaction changes when a protein mutation occurs. Third, the mutated structures are available to download locally for further structural and functional analysis. Fourth, we used Jsmol package to display the protein structure that has no system compatibility issue. SNP2Structure provides reliable, high quality mapping of nsSNPs to 3D protein structures enabling researchers to explore the likely functional impact of human disease-causing mutations.

Using Interactive Visualization to Analyze Solid Earth Data and Geodynamics Models

Science.gov (United States)

Kellogg, L. H.; Kreylos, O.; Billen, M. I.; Hamann, B.; Jadamec, M. A.; Rundle, J. B.; van Aalsburg, J.; Yikilmaz, M. B.

2008-12-01

The geological sciences are challenged to manage and interpret increasing volumes of data as observations and simulations increase in size and complexity. Major projects such as EarthScope and GeoEarthScope are producing the data needed to characterize the structure and kinematics of Earth's surface and interior at unprecedented resolution. At the same time, high-performance computing enables high-precision and fine- detail simulation of geodynamics processes, complementing the observational data. To facilitate interpretation and analysis of these datasets, to evaluate models, and to drive future calculations, we have developed methods of interactive visualization with a special focus on using immersive virtual reality (VR) environments to interact with models of Earth's surface and interior. VR has traditionally been used primarily as a presentation tool allowing active navigation through data. Reaping the full intellectual benefits of immersive VR as a tool for accelerated scientific analysis requires building on the method's strengths, that is, using both 3D perception and interaction with observed or simulated data. Our approach to VR takes advantage of the specialized skills of geoscientists who are trained to interpret geological and geophysical data generated from field observations. Interactive tools allow the scientist to explore and interpret geodynamic models, tomographic models, and topographic observations, while feature extraction tools support quantitative measurement of structures that emerge from numerical simulations or field observations. The use of VR technology enables us to improve our interpretation of crust and mantle structure and of geodynamical processes. Mapping tools based on computer visualization allow virtual "field studies" in inaccessible regions, and an interactive tool allows us to construct digital fault models for use in numerical models. Using the interactive tools on a high-end platform such as an immersive virtual reality

Interactive visualization and analysis of 3D medical images for neurosurgery

International Nuclear Information System (INIS)

Miyazawa, Tatsuo; Otsuki, Taisuke.

1994-01-01

We propose a method that makes it possible to interactively rotate and zoom a volume-rendered object and to interactively manipulate a function for transferring data values to color and opacity. The method ray-traces a Value-Intensity-Strength volume (VIS volume) instead of a color-opacity volume, and uses an adaptive refinement technique in generating images. The VIS volume tracing method can reduce by 20-90 percent the computational time of re-calculation necessitated by changing the function for transferring data values to color and opacity, and can reduce the computational time of pre-processing by 20 percent. It can also reduce the required memory space by 40 percent. The combination of VIS volume tracing and adaptive refinement method makes it possible to interactively visualize and analyze 3D medical image data. Once we can see detailed image of 3D objects to determine their orientation, we can easily manipulate the viewing and rendering parameters even while viewing rough, blurred images. The increase in the computation time for generating full-resolution images by using the adaptive refinement technique is approximately five to ten percent. Its effectiveness is evaluated by using the results of visualization for some 3D medical image data. (author)

Vocal and visual stimulation, congruence and lateralization affect brain oscillations in interspecies emotional positive and negative interactions.

Science.gov (United States)

Balconi, Michela; Vanutelli, Maria Elide

2016-01-01

The present research explored the effect of cross-modal integration of emotional cues (auditory and visual (AV)) compared with only visual (V) emotional cues in observing interspecies interactions. The brain activity was monitored when subjects processed AV and V situations, which represented an emotional (positive or negative), interspecies (human-animal) interaction. Congruence (emotionally congruous or incongruous visual and auditory patterns) was also modulated. electroencephalography brain oscillations (from delta to beta) were analyzed and the cortical source localization (by standardized Low Resolution Brain Electromagnetic Tomography) was applied to the data. Frequency band (mainly low-frequency delta and theta) showed a significant brain activity increasing in response to negative compared to positive interactions within the right hemisphere. Moreover, differences were found based on stimulation type, with an increased effect for AV compared with V. Finally, delta band supported a lateralized right dorsolateral prefrontal cortex (DLPFC) activity in response to negative and incongruous interspecies interactions, mainly for AV. The contribution of cross-modality, congruence (incongruous patterns), and lateralization (right DLPFC) in response to interspecies emotional interactions was discussed at light of a "negative lateralized effect."

Blood lead levels, iron metabolism gene polymorphisms and homocysteine: a gene-environment interaction study.

Science.gov (United States)

Kim, Kyoung-Nam; Lee, Mee-Ri; Lim, Youn-Hee; Hong, Yun-Chul

2017-12-01

Homocysteine has been causally associated with various adverse health outcomes. Evidence supporting the relationship between lead and homocysteine levels has been accumulating, but most prior studies have not focused on the interaction with genetic polymorphisms. From a community-based prospective cohort, we analysed 386 participants (aged 41-71 years) with information regarding blood lead and plasma homocysteine levels. Blood lead levels were measured between 2001 and 2003, and plasma homocysteine levels were measured in 2007. Interactions of lead levels with 42 genotyped single-nucleotide polymorphisms (SNPs) in five genes ( TF , HFE , CBS , BHMT and MTR ) were assessed via a 2-degree of freedom (df) joint test and a 1-df interaction test. In secondary analyses using imputation, we further assessed 58 imputed SNPs in the TF and MTHFR genes. Blood lead concentrations were positively associated with plasma homocysteine levels (p=0.0276). Six SNPs in the TF and MTR genes were screened using the 2-df joint test, and among them, three SNPs in the TF gene showed interactions with lead with respect to homocysteine levels through the 1-df interaction test (plead levels. Blood lead levels were positively associated with plasma homocysteine levels measured 4-6 years later, and three SNPs in the TF gene modified the association. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility.

Directory of Open Access Journals (Sweden)

Yadav Sapkota

Full Text Available Genome-wide association studies (GWASs have identified low-penetrance common variants (i.e., single nucleotide polymorphisms, SNPs associated with breast cancer susceptibility. Although GWASs are primarily focused on single-locus effects, gene-gene interactions (i.e., epistasis are also assumed to contribute to the genetic risks for complex diseases including breast cancer. While it has been hypothesized that moderately ranked (P value based weak single-locus effects in GWASs could potentially harbor valuable information for evaluating epistasis, we lack systematic efforts to investigate SNPs showing consistent associations with weak statistical significance across independent discovery and replication stages. The objectives of this study were i to select SNPs showing single-locus effects with weak statistical significance for breast cancer in a GWAS and/or candidate-gene studies; ii to replicate these SNPs in an independent set of breast cancer cases and controls; and iii to explore their potential SNP-SNP interactions contributing to breast cancer susceptibility. A total of 17 SNPs related to DNA repair, modification and metabolism pathway genes were selected since these pathways offer a priori knowledge for potential epistatic interactions and an overall role in breast carcinogenesis. The study design included predominantly Caucasian women (2,795 cases and 4,505 controls from Alberta, Canada. We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412 in logistic regression that conferred elevated risks for breast cancer (P(interaction<7.3 × 10(-3. Logic regression identified an interaction involving four SNPs (MBD2-rs4041245, MLH1-rs1799977, MDM2-rs769412, BRCA2-rs1799943 (P(permutation = 2.4 × 10(-3. SNPs involved in SNP-SNP interactions also showed single-locus effects with weak statistical significance, while BRCA2-rs1799943 showed stronger statistical significance (P

Surface Plasmon Resonance of Counterions coated Charged Silver Nanoparticles and Application in Bio-interaction

Science.gov (United States)

Ghosh, Goutam; Panicker, Lata; Naveen Kumar, N.; Mallick, Vivek

2018-05-01

Silver nanoparticles (SNPs) play very significant roles in biomedical applications, e.g., biosensors in numerous assays for quantitative detection, and the surface chemistry adds an important factor in that. In this investigation, we coated SNPs either by anionic citrates, like tri-lithium citrate (TLC) or tri-potassium citrate (TKC) which are associated with Li+ or K+ counterions, respectively; or by cationic surfactants, like cetylpyridinium chloride (CPC) or cetylpyridinium iodide (CPI) which are associated with Cl‑ or I‑ counterions, respectively, at the surface of nanoparticles. Our aim was to study (i) how the counterions affect the optical property of SNPs and (ii) the interaction of coated SNPs with a protein, hen egg white lysozyme (HEWL). Transmission electron microscopy (TEM) and dynamic light scattering (DLS) techniques were used to measure the size, and UV absorption spectroscopy was used to characterize the surface plasmon resonance (SPR) band of SNPs. ζ-potential, fluorescence quenching and circular dichroism (CD) spectroscopy techniques were used for characterizing the protein-nanoparticles interaction.

Screening for SNPs with Allele-Specific Methylation based on Next-Generation Sequencing Data.

Science.gov (United States)

Hu, Bo; Ji, Yuan; Xu, Yaomin; Ting, Angela H

2013-05-01

Allele-specific methylation (ASM) has long been studied but mainly documented in the context of genomic imprinting and X chromosome inactivation. Taking advantage of the next-generation sequencing technology, we conduct a high-throughput sequencing experiment with four prostate cell lines to survey the whole genome and identify single nucleotide polymorphisms (SNPs) with ASM. A Bayesian approach is proposed to model the counts of short reads for each SNP conditional on its genotypes of multiple subjects, leading to a posterior probability of ASM. We flag SNPs with high posterior probabilities of ASM by accounting for multiple comparisons based on posterior false discovery rates. Applying the Bayesian approach to the in-house prostate cell line data, we identify 269 SNPs as candidates of ASM. A simulation study is carried out to demonstrate the quantitative performance of the proposed approach.

3D MODELLING AND INTERACTIVE WEB-BASED VISUALIZATION OF CULTURAL HERITAGE OBJECTS

Directory of Open Access Journals (Sweden)

M. N. Koeva

2016-06-01

Full Text Available Nowadays, there are rapid developments in the fields of photogrammetry, laser scanning, computer vision and robotics, together aiming to provide highly accurate 3D data that is useful for various applications. In recent years, various LiDAR and image-based techniques have been investigated for 3D modelling because of their opportunities for fast and accurate model generation. For cultural heritage preservation and the representation of objects that are important for tourism and their interactive visualization, 3D models are highly effective and intuitive for present-day users who have stringent requirements and high expectations. Depending on the complexity of the objects for the specific case, various technological methods can be applied. The selected objects in this particular research are located in Bulgaria – a country with thousands of years of history and cultural heritage dating back to ancient civilizations. \\this motivates the preservation, visualisation and recreation of undoubtedly valuable historical and architectural objects and places, which has always been a serious challenge for specialists in the field of cultural heritage. In the present research, comparative analyses regarding principles and technological processes needed for 3D modelling and visualization are presented. The recent problems, efforts and developments in interactive representation of precious objects and places in Bulgaria are presented. Three technologies based on real projects are described: (1 image-based modelling using a non-metric hand-held camera; (2 3D visualization based on spherical panoramic images; (3 and 3D geometric and photorealistic modelling based on architectural CAD drawings. Their suitability for web-based visualization are demonstrated and compared. Moreover the possibilities for integration with additional information such as interactive maps, satellite imagery, sound, video and specific information for the objects are described. This

Identification and analysis of Single Nucleotide Polymorphisms (SNPs in the mosquito Anopheles funestus, malaria vector

Directory of Open Access Journals (Sweden)

Hemingway Janet

2007-01-01

Full Text Available Abstract Background Single nucleotide polymorphisms (SNPs are the most common source of genetic variation in eukaryotic species and have become an important marker for genetic studies. The mosquito Anopheles funestus is one of the major malaria vectors in Africa and yet, prior to this study, no SNPs have been described for this species. Here we report a genome-wide set of SNP markers for use in genetic studies on this important human disease vector. Results DNA fragments from 50 genes were amplified and sequenced from 21 specimens of An. funestus. A third of specimens were field collected in Malawi, a third from a colony of Mozambican origin and a third form a colony of Angolan origin. A total of 494 SNPs including 303 within the coding regions of genes and 5 indels were identified. The physical positions of these SNPs in the genome are known. There were on average 7 SNPs per kilobase similar to that observed in An. gambiae and Drosophila melanogaster. Transitions outnumbered transversions, at a ratio of 2:1. The increased frequency of transition substitutions in coding regions is likely due to the structure of the genetic code and selective constraints. Synonymous sites within coding regions showed a higher polymorphism rate than non-coding introns or 3' and 5'flanking DNA with most of the substitutions in coding regions being observed at the 3rd codon position. A positive correlation in the level of polymorphism was observed between coding and non-coding regions within a gene. By genotyping a subset of 30 SNPs, we confirmed the validity of the SNPs identified during this study. Conclusion This set of SNP markers represents a useful tool for genetic studies in An. funestus, and will be useful in identifying candidate genes that affect diverse ranges of phenotypes that impact on vector control, such as resistance insecticide, mosquito behavior and vector competence.

QuickRNASeq: Guide for Pipeline Implementation and for Interactive Results Visualization.

Science.gov (United States)

He, Wen; Zhao, Shanrong; Zhang, Chi; Vincent, Michael S; Zhang, Baohong

2018-01-01

Sequencing of transcribed RNA molecules (RNA-Seq) has been used wildly for studying cell transcriptomes in bulk or at the single-cell level (Wang et al., Nat Rev Genet, 10:57-63, 2009; Ozsolak and Milos, Nat Rev Genet, 12:87-98, 2011; Sandberg, Nat Methods, 11:22-24, 2014) and is becoming the de facto technology for investigating gene expression level changes in various biological conditions, on the time course, and under drug treatments. Furthermore, RNA-Seq data helped identify fusion genes that are related to certain cancers (Maher et al., Nature, 458:97-101, 2009). Differential gene expression before and after drug treatments provides insights to mechanism of action, pharmacodynamics of the drugs, and safety concerns (Dixit et al., Genomics, 107:178-188, 2016). Because each RNA-Seq run generates tens to hundreds of millions of short reads with size ranging from 50 to 200 bp, a tool that deciphers these short reads to an integrated and digestible analysis report is in high demand. QuickRNASeq (Zhao et al., BMC Genomics, 17:39-53, 2016) is an application for large-scale RNA-Seq data analysis and real-time interactive visualization of complex data sets. This application automates the use of several of the best open-source tools to efficiently generate user friendly, easy to share, and ready to publish report. Figures in this protocol illustrate some of the interactive plots produced by QuickRNASeq. The visualization features of the application have been further improved since its first publication in early 2016. The original QuickRNASeq publication (Zhao et al., BMC Genomics, 17:39-53, 2016) provided details of background, software selection, and implementation. Here, we outline the steps required to implement QuickRNASeq in user's own environment, as well as demonstrate some basic yet powerful utilities of the advanced interactive visualization modules in the report.

Research on the Design of Visually Impaired Interactive Accessibility in Large Urban Public Transport System

Science.gov (United States)

Zhang, Weiru

2017-12-01

In medieval times, due to people’s reliance on belief, public space of Christianity came into being. With the rise of secularization, religion gradually turned into private belief, and accordingly public space returned to private space. In the 21st century, due to people’s reliance on intelligent devices, information-interactive public space emerges, and as information interaction is constantly constraining the visually impaired, public space regressed to the exclusive space of limited people[1]. Modernity is marked by technical rationality, but an ensuing basic problem lies in the separation between human action, ethics and public space. When technology fails to overcome obstacles for a particular group, the gap between the burgeoning intelligent phenomena and the increasing ratio of visually impaired is also expanding, ultimately resulting in a growing number of “blind spots” in information-interactive space. Technological innovation not only promotes the development of the information industry, but also promotes the rapid development of the transportation industry. Traffic patterns are diversifying and diverging nowadays, but it’s a fatal blow for people with visually disabilities, Because they still can only experience the most traditional mode of transportation, sometimes even not go out. How to guarantee their interactive accessibility in large urban public transport system right, currently, is a very important research direction.

Dynamic adjustments in prefrontal, hippocampal, and inferior temporal interactions with increasing visual working memory load.

Science.gov (United States)

Rissman, Jesse; Gazzaley, Adam; D'Esposito, Mark

2008-07-01

The maintenance of visual stimuli across a delay interval in working memory tasks is thought to involve reverberant neural communication between the prefrontal cortex and posterior visual association areas. Recent studies suggest that the hippocampus might also contribute to this retention process, presumably via reciprocal interactions with visual regions. To characterize the nature of these interactions, we performed functional connectivity analysis on an event-related functional magnetic resonance imaging data set in which participants performed a delayed face recognition task. As the number of faces that participants were required to remember was parametrically increased, the right inferior frontal gyrus (IFG) showed a linearly decreasing degree of functional connectivity with the fusiform face area (FFA) during the delay period. In contrast, the hippocampus linearly increased its delay period connectivity with both the FFA and the IFG as the mnemonic load increased. Moreover, the degree to which participants' FFA showed a load-dependent increase in its connectivity with the hippocampus predicted the degree to which its connectivity with the IFG decreased with load. Thus, these neural circuits may dynamically trade off to accommodate the particular mnemonic demands of the task, with IFG-FFA interactions mediating maintenance at lower loads and hippocampal interactions supporting retention at higher loads.

Interactive 4D Visualization of Sediment Transport Models

Science.gov (United States)

Butkiewicz, T.; Englert, C. M.

2013-12-01

Coastal sediment transport models simulate the effects that waves, currents, and tides have on near-shore bathymetry and features such as beaches and barrier islands. Understanding these dynamic processes is integral to the study of coastline stability, beach erosion, and environmental contamination. Furthermore, analyzing the results of these simulations is a critical task in the design, placement, and engineering of coastal structures such as seawalls, jetties, support pilings for wind turbines, etc. Despite the importance of these models, there is a lack of available visualization software that allows users to explore and perform analysis on these datasets in an intuitive and effective manner. Existing visualization interfaces for these datasets often present only one variable at a time, using two dimensional plan or cross-sectional views. These visual restrictions limit the ability to observe the contents in the proper overall context, both in spatial and multi-dimensional terms. To improve upon these limitations, we use 3D rendering and particle system based illustration techniques to show water column/flow data across all depths simultaneously. We can also encode multiple variables across different perceptual channels (color, texture, motion, etc.) to enrich surfaces with multi-dimensional information. Interactive tools are provided, which can be used to explore the dataset and find regions-of-interest for further investigation. Our visualization package provides an intuitive 4D (3D, time-varying) visualization of sediment transport model output. In addition, we are also integrating real world observations with the simulated data to support analysis of the impact from major sediment transport events. In particular, we have been focusing on the effects of Superstorm Sandy on the Redbird Artificial Reef Site, offshore of Delaware Bay. Based on our pre- and post-storm high-resolution sonar surveys, there has significant scour and bedform migration around the

ICSNPathway: identify candidate causal SNPs and pathways from genome-wide association study by one analytical framework.

Science.gov (United States)

Zhang, Kunlin; Chang, Suhua; Cui, Sijia; Guo, Liyuan; Zhang, Liuyan; Wang, Jing

2011-07-01

Genome-wide association study (GWAS) is widely utilized to identify genes involved in human complex disease or some other trait. One key challenge for GWAS data interpretation is to identify causal SNPs and provide profound evidence on how they affect the trait. Currently, researches are focusing on identification of candidate causal variants from the most significant SNPs of GWAS, while there is lack of support on biological mechanisms as represented by pathways. Although pathway-based analysis (PBA) has been designed to identify disease-related pathways by analyzing the full list of SNPs from GWAS, it does not emphasize on interpreting causal SNPs. To our knowledge, so far there is no web server available to solve the challenge for GWAS data interpretation within one analytical framework. ICSNPathway is developed to identify candidate causal SNPs and their corresponding candidate causal pathways from GWAS by integrating linkage disequilibrium (LD) analysis, functional SNP annotation and PBA. ICSNPathway provides a feasible solution to bridge the gap between GWAS and disease mechanism study by generating hypothesis of SNP → gene → pathway(s). The ICSNPathway server is freely available at http://icsnpathway.psych.ac.cn/.

A framework for interactive visualization of digital medical images.

Science.gov (United States)

Koehring, Andrew; Foo, Jung Leng; Miyano, Go; Lobe, Thom; Winer, Eliot

2008-10-01

The visualization of medical images obtained from scanning techniques such as computed tomography and magnetic resonance imaging is a well-researched field. However, advanced tools and methods to manipulate these data for surgical planning and other tasks have not seen widespread use among medical professionals. Radiologists have begun using more advanced visualization packages on desktop computer systems, but most physicians continue to work with basic two-dimensional grayscale images or not work directly with the data at all. In addition, new display technologies that are in use in other fields have yet to be fully applied in medicine. It is our estimation that usability is the key aspect in keeping this new technology from being more widely used by the medical community at large. Therefore, we have a software and hardware framework that not only make use of advanced visualization techniques, but also feature powerful, yet simple-to-use, interfaces. A virtual reality system was created to display volume-rendered medical models in three dimensions. It was designed to run in many configurations, from a large cluster of machines powering a multiwalled display down to a single desktop computer. An augmented reality system was also created for, literally, hands-on interaction when viewing models of medical data. Last, a desktop application was designed to provide a simple visualization tool, which can be run on nearly any computer at a user's disposal. This research is directed toward improving the capabilities of medical professionals in the tasks of preoperative planning, surgical training, diagnostic assistance, and patient education.

An association study of 13 SNPs from seven candidate genes with pediatric asthma and a preliminary study for genetic testing by multiple variants in Taiwanese population.

Science.gov (United States)

Wang, Jiu-Yao; Liou, Ya-Huei; Wu, Ying-Jye; Hsiao, Ya-Hsin; Wu, Lawrence Shih-Hsin

2009-03-01

Asthma is one of the most common chronic diseases in children. It is caused by complex interactions between various genetic factors and exposures to environmental allergens and irritants. Because of the heterogeneity of the disease and the genetic and cultural differences among different populations, a proper association study and genetic testing for asthma and susceptibility genes is difficult to perform. We assessed 13 single-nucleotide polymorphisms (SNPs) in seven well-known asthma susceptibility genes and looked for association with pediatric asthma using 449 asthmatic subjects and 512 non-asthma subjects in Taiwanese population. CD14-159 C/T and MS4A2 Glu237Gly were identified to have difference in genotype/allele frequencies between the control group and asthma patients. Moreover, the genotype synergistic analysis showed that the co-contribution of two functional SNPs was riskier or more protective from asthma attack. Our study provided a genotype synergistic method for studying gene-gene interaction on polymorphism basis and genetic testing using multiple polymorphisms.

SnopViz, an interactive snow profile visualization tool

Science.gov (United States)

Fierz, Charles; Egger, Thomas; gerber, Matthias; Bavay, Mathias; Techel, Frank

2016-04-01

SnopViz is a visualization tool for both simulation outputs of the snow-cover model SNOWPACK and observed snow profiles. It has been designed to fulfil the needs of operational services (Swiss Avalanche Warning Service, Avalanche Canada) as well as offer the flexibility required to satisfy the specific needs of researchers. This JavaScript application runs on any modern browser and does not require an active Internet connection. The open source code is available for download from models.slf.ch where examples can also be run. Both the SnopViz library and the SnopViz User Interface will become a full replacement of the current research visualization tool SN_GUI for SNOWPACK. The SnopViz library is a stand-alone application that parses the provided input files, for example, a single snow profile (CAAML file format) or multiple snow profiles as output by SNOWPACK (PRO file format). A plugin architecture allows for handling JSON objects (JavaScript Object Notation) as well and plugins for other file formats may be added easily. The outputs are provided either as vector graphics (SVG) or JSON objects. The SnopViz User Interface (UI) is a browser based stand-alone interface. It runs in every modern browser, including IE, and allows user interaction with the graphs. SVG, the XML based standard for vector graphics, was chosen because of its easy interaction with JS and a good software support (Adobe Illustrator, Inkscape) to manipulate graphs outside SnopViz for publication purposes. SnopViz provides new visualization for SNOWPACK timeline output as well as time series input and output. The actual output format for SNOWPACK timelines was retained while time series are read from SMET files, a file format used in conjunction with the open source data handling code MeteoIO. Finally, SnopViz is able to render single snow profiles, either observed or modelled, that are provided as CAAML-file. This file format (caaml.org/Schemas/V5.0/Profiles/SnowProfileIACS) is an international

Interactions between C-Reactive Protein Genotypes with Markers of Nutritional Status in Relation to Inflammation

Directory of Open Access Journals (Sweden)

Cornelie Nienaber-Rousseau

2014-11-01

Full Text Available Inflammation, as indicated by C-reactive protein concentrations (CRP, is a risk factor for chronic diseases. Both genetic and environmental factors affect susceptibility to inflammation. As dietary interventions can influence inflammatory status, we hypothesized that dietary effects could be influenced by interactions with single nucleotide polymorphisms (SNPs in the CRP gene. We determined 12 CRP SNPs, as well as various nutrition status markers in 2010 black South Africans and analyzed their effect on CRP. Interactions were observed for several genotypes with obesity in determining CRP. Lipid intake modulated the pro-inflammatory effects of some SNPs, i.e., an increase in both saturated fatty acid and monounsaturated fatty acid intake in those homozygous for the polymorphic allele at rs2808630 was associated with a larger increase in CRP. Those harboring the minor alleles at rs3093058 and rs3093062 presented with significantly higher CRP in the presence of increased triglyceride or cholesterol intake. When harboring the minor allele of these SNPs, a high omega-6 to -3 ratio was, however, found to be anti-inflammatory. Carbohydrate intake also modulated CRP SNPs, as HbA1C and fasting glucose levels interacted with some SNPs to influence the CRP. This investigation highlights the impact that nutritional status can have on reducing the inherent genetic susceptibility to a heightened systemic inflammatory state.

Association of p21 SNPs and risk of cervical cancer among Chinese women

International Nuclear Information System (INIS)

Wang, Ning; Wang, Shizhuo; Zhang, Qiao; Lu, Yanming; Wei, Heng; Li, Wei; Zhang, Shulan; Yin, Duo; Ou, Yangling

2012-01-01

The p21 codon 31 single nucleotide polymorphism (SNP), rs1801270, has been linked to cervical cancer but with controversial results. The aims of this study were to investigate the role of p21 SNP-rs1801270 and other untested p21 SNPs in the risk of cervical cancer in a Chinese population. We genotyped five p21 SNPs (rs762623, rs2395655, rs1801270, rs3176352, and rs1059234) using peripheral blood DNA from 393 cervical cancer patients and 434 controls. The frequency of the rs1801270 A allele in patients (0.421) was significantly lower than that in controls (0.494, p = 0.003). The frequency of the rs3176352 C allele in cases (0.319) was significantly lower than that in controls (0.417, p < 0.001).The allele frequency of other three p21 SNPs showed not statistically significantly different between patients and controls. The rs1801270 AA genotype was associated with a decreased risk for the development of cervical cancer (OR = 0.583, 95%CI: 0.399 - 0.853, P = 0.005). We observed that the three p21 SNPs (rs1801270, rs3176352, and rs1059234) was in linkage disequilibrium (LD) and thus haplotype analysis was performed. The AGT haplotype (which includes the rs1801270A allele) was the most frequent haplotype among all subjects, and both homozygosity and heterozygosity for the AGT haplotype provided a protective effect from development of cervical cancer. We show an association between the p21 SNP rs1801270A allele and a decreased risk for cervical cancer in a population of Chinese women. The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs1059234) also provided a protective effect in development of cervical cancer in this population

WebViz:A Web-based Collaborative Interactive Visualization System for large-Scale Data Sets

Science.gov (United States)

Yuen, D. A.; McArthur, E.; Weiss, R. M.; Zhou, J.; Yao, B.

2010-12-01

WebViz is a web-based application designed to conduct collaborative, interactive visualizations of large data sets for multiple users, allowing researchers situated all over the world to utilize the visualization services offered by the University of Minnesota’s Laboratory for Computational Sciences and Engineering (LCSE). This ongoing project has been built upon over the last 3 1/2 years .The motivation behind WebViz lies primarily with the need to parse through an increasing amount of data produced by the scientific community as a result of larger and faster multicore and massively parallel computers coming to the market, including the use of general purpose GPU computing. WebViz allows these large data sets to be visualized online by anyone with an account. The application allows users to save time and resources by visualizing data ‘on the fly’, wherever he or she may be located. By leveraging AJAX via the Google Web Toolkit (http://code.google.com/webtoolkit/), we are able to provide users with a remote, web portal to LCSE's (http://www.lcse.umn.edu) large-scale interactive visualization system already in place at the University of Minnesota. LCSE’s custom hierarchical volume rendering software provides high resolution visualizations on the order of 15 million pixels and has been employed for visualizing data primarily from simulations in astrophysics to geophysical fluid dynamics . In the current version of WebViz, we have implemented a highly extensible back-end framework built around HTTP "server push" technology. The web application is accessible via a variety of devices including netbooks, iPhones, and other web and javascript-enabled cell phones. Features in the current version include the ability for users to (1) securely login (2) launch multiple visualizations (3) conduct collaborative visualization sessions (4) delegate control aspects of a visualization to others and (5) engage in collaborative chats with other users within the user interface

Partition dataset according to amino acid type improves the prediction of deleterious non-synonymous SNPs

International Nuclear Information System (INIS)

Yang, Jing; Li, Yuan-Yuan; Li, Yi-Xue; Ye, Zhi-Qiang

2012-01-01

Highlights: ► Proper dataset partition can improve the prediction of deleterious nsSNPs. ► Partition according to original residue type at nsSNP is a good criterion. ► Similar strategy is supposed promising in other machine learning problems. -- Abstract: Many non-synonymous SNPs (nsSNPs) are associated with diseases, and numerous machine learning methods have been applied to train classifiers for sorting disease-associated nsSNPs from neutral ones. The continuously accumulated nsSNP data allows us to further explore better prediction approaches. In this work, we partitioned the training data into 20 subsets according to either original or substituted amino acid type at the nsSNP site. Using support vector machine (SVM), training classification models on each subset resulted in an overall accuracy of 76.3% or 74.9% depending on the two different partition criteria, while training on the whole dataset obtained an accuracy of only 72.6%. Moreover, the dataset was also randomly divided into 20 subsets, but the corresponding accuracy was only 73.2%. Our results demonstrated that partitioning the whole training dataset into subsets properly, i.e., according to the residue type at the nsSNP site, will improve the performance of the trained classifiers significantly, which should be valuable in developing better tools for predicting the disease-association of nsSNPs.

Consortium analysis of 7 candidate SNPs for ovarian cancer

DEFF Research Database (Denmark)

Ramus, S.J.; Vierkant, R.A.; Johnatty, S.E.

2008-01-01

The Ovarian Cancer Association Consortium selected 7 candidate single nucleotide polymorphisms (SNPs), for which there is evidence from previous studies of an association with variation in ovarian cancer or breast cancer risks. The SNPs selected for analysis were F31I (rs2273535) in AURKA, N372H...... (rs144848) in BRCA2, rs2854344 in intron 17 of RB1, rs2811712 5' flanking CDKN2A, rs523349 in the 3' UTR of SRD5A2, D302H (rs1045485) in CASP8 and L10P (rs1982073) in TGFB1. Fourteen studies genotyped 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin...... was suggestive although no longer statistically significant (ordinal OR 0.92, 95% CI 0.79-1.06). This SNP has also been shown to have an association with decreased risk in breast cancer. There was a suggestion of an association for AURKA, when one study that caused significant study heterogeneity was excluded...

Metro-Wordle: An Interactive Visualization for Urban Text Distributions Based on Wordle

Directory of Open Access Journals (Sweden)

Chenlu Li

2018-03-01

Full Text Available With the development of cities and the explosion of information, vast amounts of geo-tagged textural data about Points of Interests (POIs have been generated. Extracting useful information and discovering text spatial distributions from the data are challenging and meaningful. Also, the huge numbers of POIs in modern cities make it important to have efficient approaches to retrieve and choose a destination. This paper provides a visual design combing metro map and wordles to meet the needs. In this visualization, metro lines serve as the divider lines splitting the city into several subareas and the boundaries to constrain wordles within each subarea. The wordles are generated from keywords extracted from the text about POIs (including reviews, descriptions, etc. and embedded into the subareas based on their geographical locations. By generating intuitive results and providing an interactive visualization to support exploring text distribution patterns, our strategy can guide the users to explore urban spatial characteristics and retrieve a location efficiently. Finally, we implement a visual analysis of the restaurants data in Shanghai, China as a case study to evaluate our strategy. Keywords: Text visualization, Location retrieval, Urban data, Metro map, Word cloud

Ranking and characterization of established BMI and lipid associated loci as candidates for gene-environment interactions

DEFF Research Database (Denmark)

Shungin, Dmitry; Deng, Wei Q; Varga, Tibor V

2017-01-01

Phenotypic variance heterogeneity across genotypes at a single nucleotide polymorphism (SNP) may reflect underlying gene-environment (G×E) or gene-gene interactions. We modeled variance heterogeneity for blood lipids and BMI in up to 44,211 participants and investigated relationships between...... variance effects (Pv), G×E interaction effects (with smoking and physical activity), and marginal genetic effects (Pm). Correlations between Pv and Pm were stronger for SNPs with established marginal effects (Spearman's ρ = 0.401 for triglycerides, and ρ = 0.236 for BMI) compared to all SNPs. When Pv...... and Pm were compared for all pruned SNPs, only BMI was statistically significant (Spearman's ρ = 0.010). Overall, SNPs with established marginal effects were overrepresented in the nominally significant part of the Pv distribution (Pbinomial BMI had...

Genome-wide single nucleotide polymorphisms (SNPs) for a model invasive ascidian Botryllus schlosseri.

Science.gov (United States)

Gao, Yangchun; Li, Shiguo; Zhan, Aibin

2018-04-01

Invasive species cause huge damages to ecology, environment and economy globally. The comprehensive understanding of invasion mechanisms, particularly genetic bases of micro-evolutionary processes responsible for invasion success, is essential for reducing potential damages caused by invasive species. The golden star tunicate, Botryllus schlosseri, has become a model species in invasion biology, mainly owing to its high invasiveness nature and small well-sequenced genome. However, the genome-wide genetic markers have not been well developed in this highly invasive species, thus limiting the comprehensive understanding of genetic mechanisms of invasion success. Using restriction site-associated DNA (RAD) tag sequencing, here we developed a high-quality resource of 14,119 out of 158,821 SNPs for B. schlosseri. These SNPs were relatively evenly distributed at each chromosome. SNP annotations showed that the majority of SNPs (63.20%) were located at intergenic regions, and 21.51% and 14.58% were located at introns and exons, respectively. In addition, the potential use of the developed SNPs for population genomics studies was primarily assessed, such as the estimate of observed heterozygosity (H O ), expected heterozygosity (H E ), nucleotide diversity (π), Wright's inbreeding coefficient (F IS ) and effective population size (Ne). Our developed SNP resource would provide future studies the genome-wide genetic markers for genetic and genomic investigations, such as genetic bases of micro-evolutionary processes responsible for invasion success.

Cross-sensory facilitation reveals neural interactions between visual and tactile motion in humans

Directory of Open Access Journals (Sweden)

Monica eGori

2011-04-01

Full Text Available Many recent studies show that the human brain integrates information across the different senses and that stimuli of one sensory modality can enhance the perception of other modalities. Here we study the processes that mediate cross-modal facilitation and summation between visual and tactile motion. We find that while summation produced a generic, non-specific improvement of thresholds, probably reflecting higher-order interaction of decision signals, facilitation reveals a strong, direction-specific interaction, which we believe reflects sensory interactions. We measured visual and tactile velocity discrimination thresholds over a wide range of base velocities and conditions. Thresholds for both visual and tactile stimuli showed the characteristic dipper function, with the minimum thresholds occurring at a given pedestal speed. When visual and tactile coherent stimuli were combined (summation condition the thresholds for these multi-sensory stimuli also showed a dipper function with the minimum thresholds occurring in a similar range to that for unisensory signals. However, the improvement of multisensory thresholds was weak and not directionally specific, well predicted by the maximum likelihood estimation model (agreeing with previous research. A different technique (facilitation did, however, reveal direction-specific enhancement. Adding a non-informative pedestal motion stimulus in one sensory modality (vision or touch selectively lowered thresholds in the other, by the same amount as pedestals in the same modality. Facilitation did not occur for neutral stimuli like sounds (that would also have reduced temporal uncertainty, nor for motion in opposite direction, even in blocked trials where the subjects knew that the motion was in the opposite direction showing that the facilitation was not under subject control. Cross-sensory facilitation is strong evidence for functionally relevant cross-sensory integration at early levels of sensory

SNPs in Multi-Species Conserved Sequences (MCS as useful markers in association studies: a practical approach

Directory of Open Access Journals (Sweden)

Pericak-Vance Margaret A

2007-08-01

Full Text Available Abstract Background Although genes play a key role in many complex diseases, the specific genes involved in most complex diseases remain largely unidentified. Their discovery will hinge on the identification of key sequence variants that are conclusively associated with disease. While much attention has been focused on variants in protein-coding DNA, variants in noncoding regions may also play many important roles in complex disease by altering gene regulation. Since the vast majority of noncoding genomic sequence is of unknown function, this increases the challenge of identifying "functional" variants that cause disease. However, evolutionary conservation can be used as a guide to indicate regions of noncoding or coding DNA that are likely to have biological function, and thus may be more likely to harbor SNP variants with functional consequences. To help bias marker selection in favor of such variants, we devised a process that prioritizes annotated SNPs for genotyping studies based on their location within Multi-species Conserved Sequences (MCSs and used this process to select SNPs in a region of linkage to a complex disease. This allowed us to evaluate the utility of the chosen SNPs for further association studies. Previously, a region of chromosome 1q43 was linked to Multiple Sclerosis (MS in a genome-wide screen. We chose annotated SNPs in the region based on location within MCSs (termed MCS-SNPs. We then obtained genotypes for 478 MCS-SNPs in 989 individuals from MS families. Results Analysis of our MCS-SNP genotypes from the 1q43 region and comparison to HapMap data confirmed that annotated SNPs in MCS regions are frequently polymorphic and show subtle signatures of selective pressure, consistent with previous reports of genome-wide variation in conserved regions. We also present an online tool that allows MCS data to be directly exported to the UCSC genome browser so that MCS-SNPs can be easily identified within genomic regions of

BioSIGHT: Interactive Visualization Modules for Science Education

Science.gov (United States)

Wong, Wee Ling

1998-01-01

Redefining science education to harness emerging integrated media technologies with innovative pedagogical goals represents a unique challenge. The Integrated Media Systems Center (IMSC) is the only engineering research center in the area of multimedia and creative technologies sponsored by the National Science Foundation. The research program at IMSC is focused on developing advanced technologies that address human-computer interfaces, database management, and high- speed network capabilities. The BioSIGHT project at IMSC is a demonstration technology project in the area of education that seeks to address how such emerging multimedia technologies can make an impact on science education. The scope of this project will help solidify NASA's commitment for the development of innovative educational resources that promotes science literacy for our students and the general population as well. These issues must be addressed as NASA marches towards the goal of enabling human space exploration that requires an understanding of life sciences in space. The IMSC BioSIGHT lab was established with the purpose of developing a novel methodology that will map a high school biology curriculum into a series of interactive visualization modules that can be easily incorporated into a space biology curriculum. Fundamental concepts in general biology must be mastered in order to allow a better understanding and application for space biology. Interactive visualization is a powerful component that can capture the students' imagination, facilitate their assimilation of complex ideas, and help them develop integrated views of biology. These modules will augment the role of the teacher and will establish the value of student-centered interactivity, both in an individual setting as well as in a collaborative learning environment. Students will be able to interact with the content material, explore new challenges, and perform virtual laboratory simulations. The BioSIGHT effort is truly cross

Genome-wide search for gene-gene interactions in colorectal cancer.

Directory of Open Access Journals (Sweden)

Shuo Jiao

Full Text Available Genome-wide association studies (GWAS have successfully identified a number of single-nucleotide polymorphisms (SNPs associated with colorectal cancer (CRC risk. However, these susceptibility loci known today explain only a small fraction of the genetic risk. Gene-gene interaction (GxG is considered to be one source of the missing heritability. To address this, we performed a genome-wide search for pair-wise GxG associated with CRC risk using 8,380 cases and 10,558 controls in the discovery phase and 2,527 cases and 2,658 controls in the replication phase. We developed a simple, but powerful method for testing interaction, which we term the Average Risk Due to Interaction (ARDI. With this method, we conducted a genome-wide search to identify SNPs showing evidence for GxG with previously identified CRC susceptibility loci from 14 independent regions. We also conducted a genome-wide search for GxG using the marginal association screening and examining interaction among SNPs that pass the screening threshold (p<10(-4. For the known locus rs10795668 (10p14, we found an interacting SNP rs367615 (5q21 with replication p = 0.01 and combined p = 4.19×10(-8. Among the top marginal SNPs after LD pruning (n = 163, we identified an interaction between rs1571218 (20p12.3 and rs10879357 (12q21.1 (nominal combined p = 2.51×10(-6; Bonferroni adjusted p = 0.03. Our study represents the first comprehensive search for GxG in CRC, and our results may provide new insight into the genetic etiology of CRC.

Table S1 Basic characteristics of 32 SNPs of neurotransmitter ...

Indian Academy of Sciences (India)

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Basic characteristics of 32 SNPs in neurotransmitter-related genes. Gene .... rs45435444, rs80837467 and rs80980072, significant differences (P. *** * ... At the same age and environments, skin lesion scores on the ears (P < 0.001), front (P <.

INTERACTIVE VISUALIZATION OF PROBABILITY AND CUMULATIVE DENSITY FUNCTIONS

KAUST Repository

Potter, Kristin; Kirby, Robert Michael; Xiu, Dongbin; Johnson, Chris R.

2012-01-01

The probability density function (PDF), and its corresponding cumulative density function (CDF), provide direct statistical insight into the characterization of a random process or field. Typically displayed as a histogram, one can infer probabilities of the occurrence of particular events. When examining a field over some two-dimensional domain in which at each point a PDF of the function values is available, it is challenging to assess the global (stochastic) features present within the field. In this paper, we present a visualization system that allows the user to examine two-dimensional data sets in which PDF (or CDF) information is available at any position within the domain. The tool provides a contour display showing the normed difference between the PDFs and an ansatz PDF selected by the user and, furthermore, allows the user to interactively examine the PDF at any particular position. Canonical examples of the tool are provided to help guide the reader into the mapping of stochastic information to visual cues along with a description of the use of the tool for examining data generated from an uncertainty quantification exercise accomplished within the field of electrophysiology.

SlicerAstro : A 3-D interactive visual analytics tool for HI data

NARCIS (Netherlands)

Punzo, D.; van der Hulst, J. M.; Roerdink, J. B. T. M.; Fillion-Robin, J. C.; Yu, L.

SKA precursors are capable of detecting hundreds of galaxies in HI in a single 12 h pointing. In deeper surveys one will probe more easily faint HI structures, typically located in the vicinity of galaxies, such as tails, filaments, and extraplanar gas. The importance of interactive visualization in

SmartR: an open-source platform for interactive visual analytics for translational research data.

Science.gov (United States)

Herzinger, Sascha; Gu, Wei; Satagopam, Venkata; Eifes, Serge; Rege, Kavita; Barbosa-Silva, Adriano; Schneider, Reinhard

2017-07-15

In translational research, efficient knowledge exchange between the different fields of expertise is crucial. An open platform that is capable of storing a multitude of data types such as clinical, pre-clinical or OMICS data combined with strong visual analytical capabilities will significantly accelerate the scientific progress by making data more accessible and hypothesis generation easier. The open data warehouse tranSMART is capable of storing a variety of data types and has a growing user community including both academic institutions and pharmaceutical companies. tranSMART, however, currently lacks interactive and dynamic visual analytics and does not permit any post-processing interaction or exploration. For this reason, we developed SmartR , a plugin for tranSMART, that equips the platform not only with several dynamic visual analytical workflows, but also provides its own framework for the addition of new custom workflows. Modern web technologies such as D3.js or AngularJS were used to build a set of standard visualizations that were heavily improved with dynamic elements. The source code is licensed under the Apache 2.0 License and is freely available on GitHub: https://github.com/transmart/SmartR . reinhard.schneider@uni.lu. Supplementary data are available at Bioinformatics online. © The Author(s) 2017. Published by Oxford University Press.

A dual-route perspective on brain activation in response to visual words: evidence for a length by lexicality interaction in the visual word form area (VWFA).

Science.gov (United States)

Schurz, Matthias; Sturm, Denise; Richlan, Fabio; Kronbichler, Martin; Ladurner, Gunther; Wimmer, Heinz

2010-02-01

Based on our previous work, we expected the Visual Word Form Area (VWFA) in the left ventral visual pathway to be engaged by both whole-word recognition and by serial sublexical coding of letter strings. To examine this double function, a phonological lexical decision task (i.e., "Does xxx sound like an existing word?") presented short and long letter strings of words, pseudohomophones, and pseudowords (e.g., Taxi, Taksi and Tazi). Main findings were that the length effect for words was limited to occipital regions and absent in the VWFA. In contrast, a marked length effect for pseudowords was found throughout the ventral visual pathway including the VWFA, as well as in regions presumably engaged by visual attention and silent-articulatory processes. The length by lexicality interaction on brain activation corresponds to well-established behavioral findings of a length by lexicality interaction on naming latencies and speaks for the engagement of the VWFA by both lexical and sublexical processes. Copyright (c) 2009 Elsevier Inc. All rights reserved.

Amplitude-modulated stimuli reveal auditory-visual interactions in brain activity and brain connectivity

Directory of Open Access Journals (Sweden)

Mark eLaing

2015-10-01

Full Text Available The temporal congruence between auditory and visual signals coming from the same source can be a powerful means by which the brain integrates information from different senses. To investigate how the brain uses temporal information to integrate auditory and visual information from continuous yet unfamiliar stimuli, we use amplitude-modulated tones and size-modulated shapes with which we could manipulate the temporal congruence between the sensory signals. These signals were independently modulated at a slow or a fast rate. Participants were presented with auditory-only, visual-only or auditory-visual (AV trials in the scanner. On AV trials, the auditory and visual signal could have the same (AV congruent or different modulation rates (AV incongruent. Using psychophysiological interaction analyses, we found that auditory regions showed increased functional connectivity predominantly with frontal regions for AV incongruent relative to AV congruent stimuli. We further found that superior temporal regions, shown previously to integrate auditory and visual signals, showed increased connectivity with frontal and parietal regions for the same contrast. Our findings provide evidence that both activity in a network of brain regions and their connectivity are important for auditory-visual integration, and help to bridge the gap between transient and familiar AV stimuli used in previous studies.

Canonical Single Nucleotide Polymorphisms (SNPs for High-Resolution Subtyping of Shiga-Toxin Producing Escherichia coli (STEC O157:H7.

Directory of Open Access Journals (Sweden)

Sean M Griffing

Full Text Available The objective of this study was to develop a canonical, parsimoniously-informative SNP panel for subtyping Shiga-toxin producing Escherichia coli (STEC O157:H7 that would be consistent with epidemiological, PFGE, and MLVA clustering of human specimens. Our group had previously identified 906 putative discriminatory SNPs, which were pared down to 391 SNPs based on their prevalence in a test set. The 391 SNPs were screened using a high-throughput form of TaqMan PCR against a set of clinical isolates that represent the most diverse collection of O157:H7 isolates from outbreaks and sporadic cases examined to date. Another 30 SNPs identified by others were also screened using the same method. Two additional targets were tested using standard TaqMan PCR endpoint analysis. These 423 SNPs were reduced to a 32 SNP panel with the almost the same discriminatory value. While the panel partitioned our diverse set of isolates in a manner that was consistent with epidemiological data and PFGE and MLVA phylogenies, it resulted in fewer subtypes than either existing method and insufficient epidemiological resolution in 10 of 47 clusters. Therefore, another round of SNP discovery was undertaken using comparative genomic resequencing of pooled DNA from the 10 clusters with insufficient resolution. This process identified 4,040 potential SNPs and suggested one of the ten clusters was incorrectly grouped. After its removal, there were 2,878 SNPs, of which only 63 were previously identified and 438 occurred across multiple clusters. Among highly clonal bacteria like STEC O157:H7, linkage disequilibrium greatly limits the number of parsimoniously informative SNPs. Therefore, it is perhaps unsurprising that our panel accounted for the potential discriminatory value of numerous other SNPs reported in the literature. We concluded published O157:H7 SNPs are insufficient for effective epidemiological subtyping. However, the 438 multi-cluster SNPs we identified may provide

Seeing the forest through the trees: uncovering phenomic complexity through interactive network visualization.

Science.gov (United States)

Warner, Jeremy L; Denny, Joshua C; Kreda, David A; Alterovitz, Gil

2015-03-01

Our aim was to uncover unrecognized phenomic relationships using force-based network visualization methods, based on observed electronic medical record data. A primary phenotype was defined from actual patient profiles in the Multiparameter Intelligent Monitoring in Intensive Care II database. Network visualizations depicting primary relationships were compared to those incorporating secondary adjacencies. Interactivity was enabled through a phenotype visualization software concept: the Phenomics Advisor. Subendocardial infarction with cardiac arrest was demonstrated as a sample phenotype; there were 332 primarily adjacent diagnoses, with 5423 relationships. Primary network visualization suggested a treatment-related complication phenotype and several rare diagnoses; re-clustering by secondary relationships revealed an emergent cluster of smokers with the metabolic syndrome. Network visualization reveals phenotypic patterns that may have remained occult in pairwise correlation analysis. Visualization of complex data, potentially offered as point-of-care tools on mobile devices, may allow clinicians and researchers to quickly generate hypotheses and gain deeper understanding of patient subpopulations. © The Author 2014. Published by Oxford University Press on behalf of the American Medical Informatics Association. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

A Mismatch EndoNuclease Array-Based Methodology (MENA) for Identifying Known SNPs or Novel Point Mutations.

Science.gov (United States)

Comeron, Josep M; Reed, Jordan; Christie, Matthew; Jacobs, Julia S; Dierdorff, Jason; Eberl, Daniel F; Manak, J Robert

2016-04-05

Accurate and rapid identification or confirmation of single nucleotide polymorphisms (SNPs), point mutations and other human genomic variation facilitates understanding the genetic basis of disease. We have developed a new methodology (called MENA (Mismatch EndoNuclease Array)) pairing DNA mismatch endonuclease enzymology with tiling microarray hybridization in order to genotype both known point mutations (such as SNPs) as well as identify previously undiscovered point mutations and small indels. We show that our assay can rapidly genotype known SNPs in a human genomic DNA sample with 99% accuracy, in addition to identifying novel point mutations and small indels with a false discovery rate as low as 10%. Our technology provides a platform for a variety of applications, including: (1) genotyping known SNPs as well as confirming newly discovered SNPs from whole genome sequencing analyses; (2) identifying novel point mutations and indels in any genomic region from any organism for which genome sequence information is available; and (3) screening panels of genes associated with particular diseases and disorders in patient samples to identify causative mutations. As a proof of principle for using MENA to discover novel mutations, we report identification of a novel allele of the beethoven (btv) gene in Drosophila, which encodes a ciliary cytoplasmic dynein motor protein important for auditory mechanosensation.

VizPrimer: a web server for visualized PCR primer design based on known gene structure.

Science.gov (United States)

Zhou, Yang; Qu, Wubin; Lu, Yiming; Zhang, Yanchun; Wang, Xiaolei; Zhao, Dongsheng; Yang, Yi; Zhang, Chenggang

2011-12-15

The visualization of gene structure plays an important role in polymerase chain reaction (PCR) primer design, especially for eukaryotic genes with a number of splice variants that users need to distinguish between via PCR. Here, we describe a visualized web server for primer design named VizPrimer. It utilizes the new information technology (IT) tools, HTML5 to display gene structure and JavaScript to interact with the users. In VizPrimer, the users can focus their attention on the gene structure and primer design strategy, without wasting time calculating the exon positions of splice variants or manually configuring complicated parameters. In addition, VizPrimer is also suitable for the design of PCR primers for amplifying open reading frames and detecting single nucleotide polymorphisms (SNPs). VizPrimer is freely available at http://biocompute.bmi.ac.cn/CZlab/VizPrimer/. The web server supported browsers: Chrome (≥5.0), Firefox (≥3.0), Safari (≥4.0) and Opera (≥10.0). zhangcg@bmi.ac.cn; yangyi528@vip.sina.com.

VisIO: enabling interactive visualization of ultra-scale, time-series data via high-bandwidth distributed I/O systems

Energy Technology Data Exchange (ETDEWEB)

Mitchell, Christopher J [Los Alamos National Laboratory; Ahrens, James P [Los Alamos National Laboratory; Wang, Jun [UCF

2010-10-15

Petascale simulations compute at resolutions ranging into billions of cells and write terabytes of data for visualization and analysis. Interactive visuaUzation of this time series is a desired step before starting a new run. The I/O subsystem and associated network often are a significant impediment to interactive visualization of time-varying data; as they are not configured or provisioned to provide necessary I/O read rates. In this paper, we propose a new I/O library for visualization applications: VisIO. Visualization applications commonly use N-to-N reads within their parallel enabled readers which provides an incentive for a shared-nothing approach to I/O, similar to other data-intensive approaches such as Hadoop. However, unlike other data-intensive applications, visualization requires: (1) interactive performance for large data volumes, (2) compatibility with MPI and POSIX file system semantics for compatibility with existing infrastructure, and (3) use of existing file formats and their stipulated data partitioning rules. VisIO, provides a mechanism for using a non-POSIX distributed file system to provide linear scaling of 110 bandwidth. In addition, we introduce a novel scheduling algorithm that helps to co-locate visualization processes on nodes with the requested data. Testing using VisIO integrated into Para View was conducted using the Hadoop Distributed File System (HDFS) on TACC's Longhorn cluster. A representative dataset, VPIC, across 128 nodes showed a 64.4% read performance improvement compared to the provided Lustre installation. Also tested, was a dataset representing a global ocean salinity simulation that showed a 51.4% improvement in read performance over Lustre when using our VisIO system. VisIO, provides powerful high-performance I/O services to visualization applications, allowing for interactive performance with ultra-scale, time-series data.

The association between individual SNPs or haplotypes of matrix metalloproteinase 1 and gastric cancer susceptibility, progression and prognosis.

Directory of Open Access Journals (Sweden)

Yong-Xi Song

Full Text Available BACKGROUND: The single nucleotide polymorphisms (SNPs in matrix metalloproteinase 1(MMP-1 play important roles in some cancers. This study examined the associations between individual SNPs or haplotypes in MMP-1 and susceptibility, clinicopathological parameters and prognosis of gastric cancer in a large sample of the Han population in northern China. METHODS: In this case-controlled study, there were 404 patients with gastric cancer and 404 healthy controls. Seven SNPs were genotyped using the MALDI-TOF MS system. Then, SPSS software, Haploview 4.2 software, Haplo.states software and THEsias software were used to estimate the association between individual SNPs or haplotypes of MMP-1 and gastric cancer susceptibility, progression and prognosis. RESULTS: Among seven SNPs, there were no individual SNPs correlated to gastric cancer risk. Moreover, only the rs470206 genotype had a correlation with histologic grades, and the patients with GA/AA had well cell differentiation compared to the patients with genotype GG (OR=0.573; 95%CI: 0.353-0.929; P=0.023. Then, we constructed a four-marker haplotype block that contained 4 common haplotypes: TCCG, GCCG, TTCG and TTTA. However, all four common haplotypes had no correlation with gastric cancer risk and we did not find any relationship between these haplotypes and clinicopathological parameters in gastric cancer. Furthermore, neither individual SNPs nor haplotypes had an association with the survival of patients with gastric cancer. CONCLUSIONS: This study evaluated polymorphisms of the MMP-1 gene in gastric cancer with a MALDI-TOF MS method in a large northern Chinese case-controlled cohort. Our results indicated that these seven SNPs of MMP-1 might not be useful as significant markers to predict gastric cancer susceptibility, progression or prognosis, at least in the Han population in northern China.

High-throughput SNP genotyping: combining tag SNPs and molecular beacons

CSIR Research Space (South Africa)

Barreiro, LB

2009-10-01

Full Text Available In the last decade, molecular beacons have emerged to become a widely used tool in the multiplex typing of single nucleotide polymorphisms (SNPs). Improvements in detection technologies in instrumentation and chemistries to label these probes have...

Mvox: Interactive 2-4D medical image and graphics visualization software

DEFF Research Database (Denmark)

Bro-Nielsen, Morten

1996-01-01

Mvox is a new tool for visualization, segmentation and manipulation of a wide range of 2-4D grey level and colour images, and 3D surface graphics, which has been developed at the Department of Mathematical Modelling, Technical University of Denmark. The principal idea behind the software has been...... to provide a flexible tool that is able to handle all the kinds of data that are typically used in a research environment for medical imaging and visualization. At the same time the software should be easy to use and have a consistent interface providing locally only the functions relevant to the context....... This has been achieved by using Unix standards such as X/Motif/OpenGL and conforming to modern standards of interactive windowed programs...

The Hologram in My Hand: How Effective is Interactive Exploration of 3D Visualizations in Immersive Tangible Augmented Reality?

Science.gov (United States)

Bach, Benjamin; Sicat, Ronell; Beyer, Johanna; Cordeil, Maxime; Pfister, Hanspeter

2018-01-01

We report on a controlled user study comparing three visualization environments for common 3D exploration. Our environments differ in how they exploit natural human perception and interaction capabilities. We compare an augmented-reality head-mounted display (Microsoft HoloLens), a handheld tablet, and a desktop setup. The novel head-mounted HoloLens display projects stereoscopic images of virtual content into a user's real world and allows for interaction in-situ at the spatial position of the 3D hologram. The tablet is able to interact with 3D content through touch, spatial positioning, and tangible markers, however, 3D content is still presented on a 2D surface. Our hypothesis is that visualization environments that match human perceptual and interaction capabilities better to the task at hand improve understanding of 3D visualizations. To better understand the space of display and interaction modalities in visualization environments, we first propose a classification based on three dimensions: perception, interaction, and the spatial and cognitive proximity of the two. Each technique in our study is located at a different position along these three dimensions. We asked 15 participants to perform four tasks, each task having different levels of difficulty for both spatial perception and degrees of freedom for interaction. Our results show that each of the tested environments is more effective for certain tasks, but that generally the desktop environment is still fastest and most precise in almost all cases.

The Hologram in My Hand: How Effective is Interactive Exploration of 3D Visualizations in Immersive Tangible Augmented Reality?

KAUST Repository

Bach, Benjamin

2017-08-29

We report on a controlled user study comparing three visualization environments for common 3D exploration. Our environments differ in how they exploit natural human perception and interaction capabilities. We compare an augmented-reality head-mounted display (Microsoft HoloLens), a handheld tablet, and a desktop setup. The novel head-mounted HoloLens display projects stereoscopic images of virtual content into a user\\'s real world and allows for interaction in-situ at the spatial position of the 3D hologram. The tablet is able to interact with 3D content through touch, spatial positioning, and tangible markers, however, 3D content is still presented on a 2D surface. Our hypothesis is that visualization environments that match human perceptual and interaction capabilities better to the task at hand improve understanding of 3D visualizations. To better understand the space of display and interaction modalities in visualization environments, we first propose a classification based on three dimensions: perception, interaction, and the spatial and cognitive proximity of the two. Each technique in our study is located at a different position along these three dimensions. We asked 15 participants to perform four tasks, each task having different levels of difficulty for both spatial perception and degrees of freedom for interaction. Our results show that each of the tested environments is more effective for certain tasks, but that generally the desktop environment is still fastest and most precise in almost all cases.

Envision: An interactive system for the management and visualization of large geophysical data sets

Science.gov (United States)

Searight, K. R.; Wojtowicz, D. P.; Walsh, J. E.; Pathi, S.; Bowman, K. P.; Wilhelmson, R. B.

1995-01-01

Envision is a software project at the University of Illinois and Texas A&M, funded by NASA's Applied Information Systems Research Project. It provides researchers in the geophysical sciences convenient ways to manage, browse, and visualize large observed or model data sets. Envision integrates data management, analysis, and visualization of geophysical data in an interactive environment. It employs commonly used standards in data formats, operating systems, networking, and graphics. It also attempts, wherever possible, to integrate with existing scientific visualization and analysis software. Envision has an easy-to-use graphical interface, distributed process components, and an extensible design. It is a public domain package, freely available to the scientific community.

Visualization of the tire-soil interaction area by means of ObjectARX programming interface

Science.gov (United States)

Mueller, W.; Gruszczyński, M.; Raba, B.; Lewicki, A.; Przybył, K.; Zaborowicz, M.; Koszela, K.; Boniecki, P.

2014-04-01

The process of data visualization, important for their analysis, becomes problematic when large data sets generated via computer simulations are available. This problem concerns, among others, the models that describe the geometry of tire-soil interaction. For the purpose of a graphical representation of this area and implementation of various geometric calculations the authors have developed a plug-in application for AutoCAD, based on the latest technologies, including ObjectARX, LINQ and the use of Visual Studio platform. Selected programming tools offer a wide variety of IT structures that enable data visualization and data analysis and are important e.g. in model verification.

SeiVis: An interactive visual subsurface modeling application

KAUST Repository

Hollt, Thomas; Freiler, Wolfgang; Gschwantner, Fritz M.; Doleisch, Helmut; Heinemann, Gabor F.; Hadwiger, Markus

2012-01-01

The most important resources to fulfill today’s energy demands are fossil fuels, such as oil and natural gas. When exploiting hydrocarbon reservoirs, a detailed and credible model of the subsurface structures is crucial in order to minimize economic and ecological risks. Creating such a model is an inverse problem: reconstructing structures from measured reflection seismics. The major challenge here is twofold: First, the structures in highly ambiguous seismic data are interpreted in the time domain. Second, a velocity model has to be built from this interpretation to match the model to depth measurements from wells. If it is not possible to obtain a match at all positions, the interpretation has to be updated, going back to the first step. This results in a lengthy back and forth between the different steps, or in an unphysical velocity model in many cases. This paper presents a novel, integrated approach to interactively creating subsurface models from reflection seismics. It integrates the interpretation of the seismic data using an interactive horizon extraction technique based on piecewise global optimization with velocity modeling. Computing and visualizing the effects of changes to the interpretation and velocity model on the depth-converted model on the fly enables an integrated feedback loop that enables a completely new connection of the seismic data in time domain and well data in depth domain. Using a novel joint time/depth visualization, depicting side-by-side views of the original and the resulting depth-converted data, domain experts can directly fit their interpretation in time domain to spatial ground truth data. We have conducted a domain expert evaluation, which illustrates that the presented workflow enables the creation of exact subsurface models much more rapidly than previous approaches. © 2012 IEEE.

SeiVis: An interactive visual subsurface modeling application

KAUST Repository

Hollt, Thomas

2012-12-01

The most important resources to fulfill today’s energy demands are fossil fuels, such as oil and natural gas. When exploiting hydrocarbon reservoirs, a detailed and credible model of the subsurface structures is crucial in order to minimize economic and ecological risks. Creating such a model is an inverse problem: reconstructing structures from measured reflection seismics. The major challenge here is twofold: First, the structures in highly ambiguous seismic data are interpreted in the time domain. Second, a velocity model has to be built from this interpretation to match the model to depth measurements from wells. If it is not possible to obtain a match at all positions, the interpretation has to be updated, going back to the first step. This results in a lengthy back and forth between the different steps, or in an unphysical velocity model in many cases. This paper presents a novel, integrated approach to interactively creating subsurface models from reflection seismics. It integrates the interpretation of the seismic data using an interactive horizon extraction technique based on piecewise global optimization with velocity modeling. Computing and visualizing the effects of changes to the interpretation and velocity model on the depth-converted model on the fly enables an integrated feedback loop that enables a completely new connection of the seismic data in time domain and well data in depth domain. Using a novel joint time/depth visualization, depicting side-by-side views of the original and the resulting depth-converted data, domain experts can directly fit their interpretation in time domain to spatial ground truth data. We have conducted a domain expert evaluation, which illustrates that the presented workflow enables the creation of exact subsurface models much more rapidly than previous approaches. © 2012 IEEE.

SeiVis: An Interactive Visual Subsurface Modeling Application.

Science.gov (United States)

Hollt, T; Freiler, W; Gschwantner, F; Doleisch, H; Heinemann, G; Hadwiger, M

2012-12-01

The most important resources to fulfill today's energy demands are fossil fuels, such as oil and natural gas. When exploiting hydrocarbon reservoirs, a detailed and credible model of the subsurface structures is crucial in order to minimize economic and ecological risks. Creating such a model is an inverse problem: reconstructing structures from measured reflection seismics. The major challenge here is twofold: First, the structures in highly ambiguous seismic data are interpreted in the time domain. Second, a velocity model has to be built from this interpretation to match the model to depth measurements from wells. If it is not possible to obtain a match at all positions, the interpretation has to be updated, going back to the first step. This results in a lengthy back and forth between the different steps, or in an unphysical velocity model in many cases. This paper presents a novel, integrated approach to interactively creating subsurface models from reflection seismics. It integrates the interpretation of the seismic data using an interactive horizon extraction technique based on piecewise global optimization with velocity modeling. Computing and visualizing the effects of changes to the interpretation and velocity model on the depth-converted model on the fly enables an integrated feedback loop that enables a completely new connection of the seismic data in time domain and well data in depth domain. Using a novel joint time/depth visualization, depicting side-by-side views of the original and the resulting depth-converted data, domain experts can directly fit their interpretation in time domain to spatial ground truth data. We have conducted a domain expert evaluation, which illustrates that the presented workflow enables the creation of exact subsurface models much more rapidly than previous approaches.

Not Just a Game … When We Play Together, We Learn Together: Interactive Virtual Environments and Gaming Engines for Geospatial Visualization

Science.gov (United States)

Shipman, J. S.; Anderson, J. W.

2017-12-01

An ideal tool for ecologists and land managers to investigate the impacts of both projected environmental changes and policy alternatives is the creation of immersive, interactive, virtual landscapes. As a new frontier in visualizing and understanding geospatial data, virtual landscapes require a new toolbox for data visualization that includes traditional GIS tools and uncommon tools such as the Unity3d game engine. Game engines provide capabilities to not only explore data but to build and interact with dynamic models collaboratively. These virtual worlds can be used to display and illustrate data that is often more understandable and plausible to both stakeholders and policy makers than is achieved using traditional maps.Within this context we will present funded research that has been developed utilizing virtual landscapes for geographic visualization and decision support among varied stakeholders. We will highlight the challenges and lessons learned when developing interactive virtual environments that require large multidisciplinary team efforts with varied competences. The results will emphasize the importance of visualization and interactive virtual environments and the link with emerging research disciplines within Visual Analytics.

Interactive data visualization foundations, techniques, and applications

CERN Document Server

Ward, Matthew; Keim, Daniel

2010-01-01

Visualization is the process of representing data, information, and knowledge in a visual form to support the tasks of exploration, confirmation, presentation, and understanding. This book is designed as a textbook for students, researchers, analysts, professionals, and designers of visualization techniques, tools, and systems. It covers the full spectrum of the field, including mathematical and analytical aspects, ranging from its foundations to human visual perception; from coded algorithms for different types of data, information and tasks to the design and evaluation of new visualization techniques. Sample programs are provided as starting points for building one's own visualization tools. Numerous data sets have been made available that highlight different application areas and allow readers to evaluate the strengths and weaknesses of different visualization methods. Exercises, programming projects, and related readings are given for each chapter. The book concludes with an examination of several existin...

Detection of gene-environment interactions in the presence of linkage disequilibrium and noise by using genetic risk scores with internal weights from elastic net regression.

Science.gov (United States)

Hüls, Anke; Ickstadt, Katja; Schikowski, Tamara; Krämer, Ursula

2017-06-12

For the analysis of gene-environment (GxE) interactions commonly single nucleotide polymorphisms (SNPs) are used to characterize genetic susceptibility, an approach that mostly lacks power and has poor reproducibility. One promising approach to overcome this problem might be the use of weighted genetic risk scores (GRS), which are defined as weighted sums of risk alleles of gene variants. The gold-standard is to use external weights from published meta-analyses. In this study, we used internal weights from the marginal genetic effects of the SNPs estimated by a multivariate elastic net regression and thereby provided a method that can be used if there are no external weights available. We conducted a simulation study for the detection of GxE interactions and compared power and type I error of single SNPs analyses with Bonferroni correction and corresponding analysis with unweighted and our weighted GRS approach in scenarios with six risk SNPs and an increasing number of highly correlated (up to 210) and noise SNPs (up to 840). Applying weighted GRS increased the power enormously in comparison to the common single SNPs approach (e.g. 94.2% vs. 35.4%, respectively, to detect a weak interaction with an OR ≈ 1.04 for six uncorrelated risk SNPs and n = 700 with a well-controlled type I error). Furthermore, weighted GRS outperformed the unweighted GRS, in particular in the presence of SNPs without any effect on the phenotype (e.g. 90.1% vs. 43.9%, respectively, when 20 noise SNPs were added to the six risk SNPs). This outperforming of the weighted GRS was confirmed in a real data application on lung inflammation in the SALIA cohort (n = 402). However, in scenarios with a high number of noise SNPs (>200 vs. 6 risk SNPs), larger sample sizes are needed to avoid an increased type I error, whereas a high number of correlated SNPs can be handled even in small samples (e.g. n = 400). In conclusion, weighted GRS with weights from the marginal genetic effects of the

The DiaCog: A Prototype Tool for Visualizing Online Dialog Games' Interactions

Science.gov (United States)

Yengin, Ilker; Lazarevic, Bojan

2014-01-01

This paper proposes and explains the design of a prototype learning tool named the DiaCog. The DiaCog visualizes dialog interactions within an online dialog game by using dynamically created cognitive maps. As a purposefully designed tool for enhancing learning effectiveness the DiaCog might be applicable to dialogs at discussion boards within a…

Visualization of Metabolic Interaction Networks in Microbial Communities Using VisANT 5.0.

Directory of Open Access Journals (Sweden)

Brian R Granger

2016-04-01

Full Text Available The complexity of metabolic networks in microbial communities poses an unresolved visualization and interpretation challenge. We address this challenge in the newly expanded version of a software tool for the analysis of biological networks, VisANT 5.0. We focus in particular on facilitating the visual exploration of metabolic interaction between microbes in a community, e.g. as predicted by COMETS (Computation of Microbial Ecosystems in Time and Space, a dynamic stoichiometric modeling framework. Using VisANT's unique metagraph implementation, we show how one can use VisANT 5.0 to explore different time-dependent ecosystem-level metabolic networks. In particular, we analyze the metabolic interaction network between two bacteria previously shown to display an obligate cross-feeding interdependency. In addition, we illustrate how a putative minimal gut microbiome community could be represented in our framework, making it possible to highlight interactions across multiple coexisting species. We envisage that the "symbiotic layout" of VisANT can be employed as a general tool for the analysis of metabolism in complex microbial communities as well as heterogeneous human tissues. VisANT is freely available at: http://visant.bu.edu and COMETS at http://comets.bu.edu.

Visualization of Metabolic Interaction Networks in Microbial Communities Using VisANT 5.0.

Science.gov (United States)

Granger, Brian R; Chang, Yi-Chien; Wang, Yan; DeLisi, Charles; Segrè, Daniel; Hu, Zhenjun

2016-04-01

The complexity of metabolic networks in microbial communities poses an unresolved visualization and interpretation challenge. We address this challenge in the newly expanded version of a software tool for the analysis of biological networks, VisANT 5.0. We focus in particular on facilitating the visual exploration of metabolic interaction between microbes in a community, e.g. as predicted by COMETS (Computation of Microbial Ecosystems in Time and Space), a dynamic stoichiometric modeling framework. Using VisANT's unique metagraph implementation, we show how one can use VisANT 5.0 to explore different time-dependent ecosystem-level metabolic networks. In particular, we analyze the metabolic interaction network between two bacteria previously shown to display an obligate cross-feeding interdependency. In addition, we illustrate how a putative minimal gut microbiome community could be represented in our framework, making it possible to highlight interactions across multiple coexisting species. We envisage that the "symbiotic layout" of VisANT can be employed as a general tool for the analysis of metabolism in complex microbial communities as well as heterogeneous human tissues. VisANT is freely available at: http://visant.bu.edu and COMETS at http://comets.bu.edu.

Interactive Simulation and Visualization of Lamb Wave Propagation in Isotropic and Anisotropic Structures

International Nuclear Information System (INIS)

Moll, J; Schulte, R T; Fritzen, C-P; Rezk-Salama, C; Klinkert, T; Kolb, A

2011-01-01

Structural health monitoring systems allow a continuous surveillance of the structural integrity of operational systems. As a result, it is possible to reduce time and costs for maintenance without decreasing the level of safety. In this paper, an integrated simulation and visualization environment is presented that enables a detailed study of Lamb wave propagation in isotropic and anisotropic materials. Thus, valuable information about the nature of Lamb wave propagation and its interaction with structural defects become available. The well-known spectral finite element method is implemented to enable a time-efficient calculation of the wave propagation problem. The results are displayed in an interactive visualization framework accounting for the human perception that is much more sensitive to motion than to changes in color. In addition, measurements have been conducted experimentally to record the full out-of-plane wave-field using a Laser-Doppler vibrometry setup. An aluminum structure with two synthetic cuts has been investigated, where the elongated defects have a different orientation with respect to the piezoelectric actuator. The resulting wave-field is also displayed interactively showing that the scattered wave-field at the defect is highly directional.

Amplitude-modulated stimuli reveal auditory-visual interactions in brain activity and brain connectivity.

Science.gov (United States)

Laing, Mark; Rees, Adrian; Vuong, Quoc C

2015-01-01

The temporal congruence between auditory and visual signals coming from the same source can be a powerful means by which the brain integrates information from different senses. To investigate how the brain uses temporal information to integrate auditory and visual information from continuous yet unfamiliar stimuli, we used amplitude-modulated tones and size-modulated shapes with which we could manipulate the temporal congruence between the sensory signals. These signals were independently modulated at a slow or a fast rate. Participants were presented with auditory-only, visual-only, or auditory-visual (AV) trials in the fMRI scanner. On AV trials, the auditory and visual signal could have the same (AV congruent) or different modulation rates (AV incongruent). Using psychophysiological interaction analyses, we found that auditory regions showed increased functional connectivity predominantly with frontal regions for AV incongruent relative to AV congruent stimuli. We further found that superior temporal regions, shown previously to integrate auditory and visual signals, showed increased connectivity with frontal and parietal regions for the same contrast. Our findings provide evidence that both activity in a network of brain regions and their connectivity are important for AV integration, and help to bridge the gap between transient and familiar AV stimuli used in previous studies.

Identificação de SNPs para conteúdo de ácidos graxos em soja pela técnica HRM

Directory of Open Access Journals (Sweden)

Maria Fernanda Antunes da Cruz

2013-12-01

Full Text Available O objetivo deste trabalho foi identificar SNPs em genes associados ao conteúdo de ácidos graxos em soja e implementar a metodologia "high resolution melting" (HRM para genotipagem desses SNPs. Os iniciadores HRM foram desenhados para discriminar os alelos SNPs em duas populações de mapeamento (RILs e F2 e seguiram o padrão esperado de segregação. Os SNPs do gene ABI associaram-se significativamente ao conteúdo de ácido esteárico (R² = 12,14, e os do gene FAD3B, aos conteúdos de ácido oleico (R² = 14,69 e linolênico (R² = 10,62. A técnica de genotipagem dos SNPs por HRM é eficiente na discriminação das classes genotípicas.

SNP-SNP interactions of three new pri-miRNAs with the target gene PGC and multidimensional analysis of H. pylori in the gastric cancer/atrophic gastritis risk in a Chinese population.

Science.gov (United States)

Xu, Qian; Wu, Ye-Feng; Li, Ying; He, Cai-Yun; Sun, Li-Ping; Liu, Jing-Wei; Yuan, Yuan

2016-04-26

Gastric cancer (GC) is a multistep complex disease involving multiple genes, and gene-gene interactions have a greater effect than a single gene in determining cancer susceptibility. This study aimed to explore the interaction of the let-7e rs8111742, miR-365b rs121224, and miR-4795 rs1002765 single nucleotide polymorphisms (SNPs) with SNPs of the predicted target gene PGC and Helicobacter pylori status in GC and atrophic gastritis (AG) risk. Three miRNA SNPs and seven PGC SNPs were detected in 2448 cases using the Sequenom MassArray platform. Two pairwise combinations of miRNA and PGC SNPs were associated with increased AG risk (let-7e rs8111742 - PGC rs6458238 and miR-4795 rs1002765 - PGC rs9471643). Singly, miR-365b rs121224 and PGC rs6912200 had no effect individually but in combination they demonstrated an epistatic interaction associated with AG risk. Similarly, let-7e rs8111742 and miR-4795 rs1002765 SNPs interacted with H. pylori infection to increase GC risk (rs8111742: Pinteraction = 0.024; rs1002765: Pinteraction = 0.031, respectively). A three-dimensional interaction analysis found miR-4795 rs1002765, PGC rs9471643, and H. pylori infection positively interacted to increase AG risk (Pinteraction = 0.027). Also, let-7e rs8111742, PGC rs6458238, and H. pylori infection positively interacted to increase GC risk (Pinteraction = 0.036). Furthermore, both of these three-dimensional interactions had a dosage-effect correspondence (Ptrend < 0.001) and were verified by MDR. In conclusion, the miRNAs SNPs (let-7e rs8111742 and miR-4795 rs1002765) might have more superior efficiency when combined with PGC SNPs and/or H. pylori for GC or AG risk than a single SNP on its own.

Sex differences in interactions between nucleus accumbens and visual cortex by explicit visual erotic stimuli: an fMRI study.

Science.gov (United States)

Lee, S W; Jeong, B S; Choi, J; Kim, J-W

2015-01-01

Men tend to have greater positive responses than women to explicit visual erotic stimuli (EVES). However, it remains unclear, which brain network makes men more sensitive to EVES and which factors contribute to the brain network activity. In this study, we aimed to assess the effect of sex difference on brain connectivity patterns by EVES. We also investigated the association of testosterone with brain connection that showed the effects of sex difference. During functional magnetic resonance imaging scans, 14 males and 14 females were asked to see alternating blocks of pictures that were either erotic or non-erotic. Psychophysiological interaction analysis was performed to investigate the functional connectivity of the nucleus accumbens (NA) as it related to EVES. Men showed significantly greater EVES-specific functional connection between the right NA and the right lateral occipital cortex (LOC). In addition, the right NA and the right LOC network activity was positively correlated with the plasma testosterone level in men. Our results suggest that the reason men are sensitive to EVES is the increased interaction in the visual reward networks, which is modulated by their plasma testosterone level.

A Bayesian Hierarchical Model for Relating Multiple SNPs within Multiple Genes to Disease Risk

Directory of Open Access Journals (Sweden)

Lewei Duan

2013-01-01

Full Text Available A variety of methods have been proposed for studying the association of multiple genes thought to be involved in a common pathway for a particular disease. Here, we present an extension of a Bayesian hierarchical modeling strategy that allows for multiple SNPs within each gene, with external prior information at either the SNP or gene level. The model involves variable selection at the SNP level through latent indicator variables and Bayesian shrinkage at the gene level towards a prior mean vector and covariance matrix that depend on external information. The entire model is fitted using Markov chain Monte Carlo methods. Simulation studies show that the approach is capable of recovering many of the truly causal SNPs and genes, depending upon their frequency and size of their effects. The method is applied to data on 504 SNPs in 38 candidate genes involved in DNA damage response in the WECARE study of second breast cancers in relation to radiotherapy exposure.

Asymmetric multisensory interactions of visual and somatosensory responses in a region of the rat parietal cortex.

Directory of Open Access Journals (Sweden)

Michael T Lippert

Full Text Available Perception greatly benefits from integrating multiple sensory cues into a unified percept. To study the neural mechanisms of sensory integration, model systems are required that allow the simultaneous assessment of activity and the use of techniques to affect individual neural processes in behaving animals. While rodents qualify for these requirements, little is known about multisensory integration and areas involved for this purpose in the rodent. Using optical imaging combined with laminar electrophysiological recordings, the rat parietal cortex was identified as an area where visual and somatosensory inputs converge and interact. Our results reveal similar response patterns to visual and somatosensory stimuli at the level of current source density (CSD responses and multi-unit responses within a strip in parietal cortex. Surprisingly, a selective asymmetry was observed in multisensory interactions: when the somatosensory response preceded the visual response, supra-linear summation of CSD was observed, but the reverse stimulus order resulted in sub-linear effects in the CSD. This asymmetry was not present in multi-unit activity however, which showed consistently sub-linear interactions. These interactions were restricted to a specific temporal window, and pharmacological tests revealed significant local intra-cortical contributions to this phenomenon. Our results highlight the rodent parietal cortex as a system to model the neural underpinnings of multisensory processing in behaving animals and at the cellular level.

A second generation human haplotype map of over 3.1 million SNPs.

Science.gov (United States)

Frazer, Kelly A; Ballinger, Dennis G; Cox, David R; Hinds, David A; Stuve, Laura L; Gibbs, Richard A; Belmont, John W; Boudreau, Andrew; Hardenbol, Paul; Leal, Suzanne M; Pasternak, Shiran; Wheeler, David A; Willis, Thomas D; Yu, Fuli; Yang, Huanming; Zeng, Changqing; Gao, Yang; Hu, Haoran; Hu, Weitao; Li, Chaohua; Lin, Wei; Liu, Siqi; Pan, Hao; Tang, Xiaoli; Wang, Jian; Wang, Wei; Yu, Jun; Zhang, Bo; Zhang, Qingrun; Zhao, Hongbin; Zhao, Hui; Zhou, Jun; Gabriel, Stacey B; Barry, Rachel; Blumenstiel, Brendan; Camargo, Amy; Defelice, Matthew; Faggart, Maura; Goyette, Mary; Gupta, Supriya; Moore, Jamie; Nguyen, Huy; Onofrio, Robert C; Parkin, Melissa; Roy, Jessica; Stahl, Erich; Winchester, Ellen; Ziaugra, Liuda; Altshuler, David; Shen, Yan; Yao, Zhijian; Huang, Wei; Chu, Xun; He, Yungang; Jin, Li; Liu, Yangfan; Shen, Yayun; Sun, Weiwei; Wang, Haifeng; Wang, Yi; Wang, Ying; Xiong, Xiaoyan; Xu, Liang; Waye, Mary M Y; Tsui, Stephen K W; Xue, Hong; Wong, J Tze-Fei; Galver, Luana M; Fan, Jian-Bing; Gunderson, Kevin; Murray, Sarah S; Oliphant, Arnold R; Chee, Mark S; Montpetit, Alexandre; Chagnon, Fanny; Ferretti, Vincent; Leboeuf, Martin; Olivier, Jean-François; Phillips, Michael S; Roumy, Stéphanie; Sallée, Clémentine; Verner, Andrei; Hudson, Thomas J; Kwok, Pui-Yan; Cai, Dongmei; Koboldt, Daniel C; Miller, Raymond D; Pawlikowska, Ludmila; Taillon-Miller, Patricia; Xiao, Ming; Tsui, Lap-Chee; Mak, William; Song, You Qiang; Tam, Paul K H; Nakamura, Yusuke; Kawaguchi, Takahisa; Kitamoto, Takuya; Morizono, Takashi; Nagashima, Atsushi; Ohnishi, Yozo; Sekine, Akihiro; Tanaka, Toshihiro; Tsunoda, Tatsuhiko; Deloukas, Panos; Bird, Christine P; Delgado, Marcos; Dermitzakis, Emmanouil T; Gwilliam, Rhian; Hunt, Sarah; Morrison, Jonathan; Powell, Don; Stranger, Barbara E; Whittaker, Pamela; Bentley, David R; Daly, Mark J; de Bakker, Paul I W; Barrett, Jeff; Chretien, Yves R; Maller, Julian; McCarroll, Steve; Patterson, Nick; Pe'er, Itsik; Price, Alkes; Purcell, Shaun; Richter, Daniel J; Sabeti, Pardis; Saxena, Richa; Schaffner, Stephen F; Sham, Pak C; Varilly, Patrick; Altshuler, David; Stein, Lincoln D; Krishnan, Lalitha; Smith, Albert Vernon; Tello-Ruiz, Marcela K; Thorisson, Gudmundur A; Chakravarti, Aravinda; Chen, Peter E; Cutler, David J; Kashuk, Carl S; Lin, Shin; Abecasis, Gonçalo R; Guan, Weihua; Li, Yun; Munro, Heather M; Qin, Zhaohui Steve; Thomas, Daryl J; McVean, Gilean; Auton, Adam; Bottolo, Leonardo; Cardin, Niall; Eyheramendy, Susana; Freeman, Colin; Marchini, Jonathan; Myers, Simon; Spencer, Chris; Stephens, Matthew; Donnelly, Peter; Cardon, Lon R; Clarke, Geraldine; Evans, David M; Morris, Andrew P; Weir, Bruce S; Tsunoda, Tatsuhiko; Mullikin, James C; Sherry, Stephen T; Feolo, Michael; Skol, Andrew; Zhang, Houcan; Zeng, Changqing; Zhao, Hui; Matsuda, Ichiro; Fukushima, Yoshimitsu; Macer, Darryl R; Suda, Eiko; Rotimi, Charles N; Adebamowo, Clement A; Ajayi, Ike; Aniagwu, Toyin; Marshall, Patricia A; Nkwodimmah, Chibuzor; Royal, Charmaine D M; Leppert, Mark F; Dixon, Missy; Peiffer, Andy; Qiu, Renzong; Kent, Alastair; Kato, Kazuto; Niikawa, Norio; Adewole, Isaac F; Knoppers, Bartha M; Foster, Morris W; Clayton, Ellen Wright; Watkin, Jessica; Gibbs, Richard A; Belmont, John W; Muzny, Donna; Nazareth, Lynne; Sodergren, Erica; Weinstock, George M; Wheeler, David A; Yakub, Imtaz; Gabriel, Stacey B; Onofrio, Robert C; Richter, Daniel J; Ziaugra, Liuda; Birren, Bruce W; Daly, Mark J; Altshuler, David; Wilson, Richard K; Fulton, Lucinda L; Rogers, Jane; Burton, John; Carter, Nigel P; Clee, Christopher M; Griffiths, Mark; Jones, Matthew C; McLay, Kirsten; Plumb, Robert W; Ross, Mark T; Sims, Sarah K; Willey, David L; Chen, Zhu; Han, Hua; Kang, Le; Godbout, Martin; Wallenburg, John C; L'Archevêque, Paul; Bellemare, Guy; Saeki, Koji; Wang, Hongguang; An, Daochang; Fu, Hongbo; Li, Qing; Wang, Zhen; Wang, Renwu; Holden, Arthur L; Brooks, Lisa D; McEwen, Jean E; Guyer, Mark S; Wang, Vivian Ota; Peterson, Jane L; Shi, Michael; Spiegel, Jack; Sung, Lawrence M; Zacharia, Lynn F; Collins, Francis S; Kennedy, Karen; Jamieson, Ruth; Stewart, John

2007-10-18

We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.

A framework for interactive visual analysis of heterogeneous marine data in an integrated problem solving environment

Science.gov (United States)

Liu, Shuai; Chen, Ge; Yao, Shifeng; Tian, Fenglin; Liu, Wei

2017-07-01

This paper presents a novel integrated marine visualization framework which focuses on processing, analyzing the multi-dimension spatiotemporal marine data in one workflow. Effective marine data visualization is needed in terms of extracting useful patterns, recognizing changes, and understanding physical processes in oceanography researches. However, the multi-source, multi-format, multi-dimension characteristics of marine data pose a challenge for interactive and feasible (timely) marine data analysis and visualization in one workflow. And, global multi-resolution virtual terrain environment is also needed to give oceanographers and the public a real geographic background reference and to help them to identify the geographical variation of ocean phenomena. This paper introduces a data integration and processing method to efficiently visualize and analyze the heterogeneous marine data. Based on the data we processed, several GPU-based visualization methods are explored to interactively demonstrate marine data. GPU-tessellated global terrain rendering using ETOPO1 data is realized and the video memory usage is controlled to ensure high efficiency. A modified ray-casting algorithm for the uneven multi-section Argo volume data is also presented and the transfer function is designed to analyze the 3D structure of ocean phenomena. Based on the framework we designed, an integrated visualization system is realized. The effectiveness and efficiency of the framework is demonstrated. This system is expected to make a significant contribution to the demonstration and understanding of marine physical process in a virtual global environment.

Natural functional SNPs in miR-155 alter its expression level, blood cell counts and immune responses

Directory of Open Access Journals (Sweden)

Congcong Li

2016-08-01

Full Text Available miR-155 has been confirmed to be a key factor in immune responses in humans and other mammals. Therefore, investigation of variations in miR-155 could be useful for understanding the differences in immunity between individuals. In this study, four SNPs in miR-155 were identified in mice (Mus musculus and humans (Homo sapiens. In mice, the four SNPs were closely linked and formed two miR-155 haplotypes (A and B. Ten distinct types of blood parameters were associated with miR-155 expression under normal conditions. Additionally, 4 and 14 blood parameters were significantly different between these two genotypes under normal and lipopolysaccharide (LPS stimulation conditions, respectively. Moreover, the expression levels of miR-155, the inflammatory response to LPS stimulation and the lethal ratio following Salmonella typhimurium infection were significantly increased in mice harboring the AA genotype. Further, two SNPs, one in the loop region and the other near the 3' terminal of pre-miR-155, were confirmed to be responsible for the differential expression of miR-155 in mice. Interestingly, two additional SNPs, one in the loop region and the other in the middle of miR-155*, modulated the function of miR-155 in humans. Predictions of secondary RNA structure using RNAfold showed that these SNPs affected the structure of miR-155 in both mice and humans. Our results provide novel evidence of the natural functional SNPs of miR-155 in both mice and humans, which may affect the expression levels of mature miR-155 by modulating its secondary structure. The SNPs of human miR-155 may be considered as causal mutations for some immune-related diseases in the clinic. The two genotypes of mice could be used as natural models for studying the mechanisms of immune diseases caused by abnormal expression of miR-155 in humans.

TECHNIQUES AND ALGORITHMS OF INTERACTIVE AUGMENTED REALITY VISUALIZATION: RESEARCH AND DEVELOPMENT

OpenAIRE

Kravtsov A. A.

2015-01-01

The author performed a research with the purpose of improving visualization of three-dimensional objects by means of augmented reality technology with the use of massively available mobile devices as a platform. This article summarizes the main results and provides suggestions for future research. Since graphical user interfaces made it to the consumer market about 30 years ago, interaction with the computer has not changed significantly. The focus of current user interface techniques is only...

Employing WebGL to develop interactive stereoscopic 3D content for use in biomedical visualization

Science.gov (United States)

Johnston, Semay; Renambot, Luc; Sauter, Daniel

2013-03-01

Web Graphics Library (WebGL), the forthcoming web standard for rendering native 3D graphics in a browser, represents an important addition to the biomedical visualization toolset. It is projected to become a mainstream method of delivering 3D online content due to shrinking support for third-party plug-ins. Additionally, it provides a virtual reality (VR) experience to web users accommodated by the growing availability of stereoscopic displays (3D TV, desktop, and mobile). WebGL's value in biomedical visualization has been demonstrated by applications for interactive anatomical models, chemical and molecular visualization, and web-based volume rendering. However, a lack of instructional literature specific to the field prevents many from utilizing this technology. This project defines a WebGL design methodology for a target audience of biomedical artists with a basic understanding of web languages and 3D graphics. The methodology was informed by the development of an interactive web application depicting the anatomy and various pathologies of the human eye. The application supports several modes of stereoscopic displays for a better understanding of 3D anatomical structures.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

DEFF Research Database (Denmark)

Lee, S Hong; Ripke, Stephan; Neale, Benjamin M

2013-01-01

Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases...... and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17......-29% of the variance in liability. The genetic correlation calculated using common SNPs was high between schizophrenia and bipolar disorder (0.68 ± 0.04 s.e.), moderate between schizophrenia and major depressive disorder (0.43 ± 0.06 s.e.), bipolar disorder and major depressive disorder (0.47 ± 0.06 s.e.), and ADHD...

Starting research in interaction design with visuals for low-functioning children in the autistic spectrum: a protocol.

Science.gov (United States)

Parés, Narcís; Carreras, Anna; Durany, Jaume; Ferrer, Jaume; Freixa, Pere; Gómez, David; Kruglanski, Orit; Parés, Roc; Ribas, J Ignasi; Soler, Miquel; Sanjurjo, Alex

2006-04-01

On starting to think about interaction design for low-functioning persons in the autistic spectrum (PAS), especially children, one finds a number of questions that are difficult to answer: Can we typify the PAS user? Can we engage the user in interactive communication without generating frustrating or obsessive situations? What sort of visual stimuli can we provide? Will they prefer representational or abstract visual stimuli? Will they understand three-dimensional (3D) graphic representation? What sort of interfaces will they accept? Can we set ambitious goals such as education or therapy? Unfortunately, most of these questions have no answer yet. Hence, we decided to set an apparently simple goal: to design a "fun application," with no intention to reach the level of education or therapy. The goal was to be attained by giving the users a sense of agency--by providing first a sense of control in the interaction dialogue. Our approach to visual stimuli design has been based on the use of geometric, abstract, two-dimensional (2D), real-time computer graphics in a full-body, non-invasive, interactive space. The results obtained within the European-funded project MultiSensory Environment Design for an Interface between Autistic and Typical Expressiveness (MEDIATE) have been extremely encouraging.

3DProIN: Protein-Protein Interaction Networks and Structure Visualization.

Science.gov (United States)

Li, Hui; Liu, Chunmei

2014-06-14

3DProIN is a computational tool to visualize protein-protein interaction networks in both two dimensional (2D) and three dimensional (3D) view. It models protein-protein interactions in a graph and explores the biologically relevant features of the tertiary structures of each protein in the network. Properties such as color, shape and name of each node (protein) of the network can be edited in either 2D or 3D views. 3DProIN is implemented using 3D Java and C programming languages. The internet crawl technique is also used to parse dynamically grasped protein interactions from protein data bank (PDB). It is a java applet component that is embedded in the web page and it can be used on different platforms including Linux, Mac and Window using web browsers such as Firefox, Internet Explorer, Chrome and Safari. It also was converted into a mac app and submitted to the App store as a free app. Mac users can also download the app from our website. 3DProIN is available for academic research at http://bicompute.appspot.com.

Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset.

Directory of Open Access Journals (Sweden)

Eric R Gamazon

Full Text Available Microarray gene expression data has been used in genome-wide association studies to allow researchers to study gene regulation as well as other complex phenotypes including disease risks and drug response. To reach scientifically sound conclusions from these studies, however, it is necessary to get reliable summarization of gene expression intensities. Among various factors that could affect expression profiling using a microarray platform, single nucleotide polymorphisms (SNPs in target mRNA may lead to reduced signal intensity measurements and result in spurious results. The recently released 1000 Genomes Project dataset provides an opportunity to evaluate the distribution of both known and novel SNPs in the International HapMap Project lymphoblastoid cell lines (LCLs. We mapped the 1000 Genomes Project genotypic data to the Affymetrix GeneChip Human Exon 1.0ST array (exon array, which had been used in our previous studies and for which gene expression data had been made publicly available. We also evaluated the potential impact of these SNPs on the differentially spliced probesets we had identified previously. Though the 1000 Genomes Project data allowed a comprehensive survey of the SNPs in this particular array, the same approach can certainly be applied to other microarray platforms. Furthermore, we present a detailed catalogue of SNP-containing probesets (exon-level and transcript clusters (gene-level, which can be considered in evaluating findings using the exon array as well as benefit the design of follow-up experiments and data re-analysis.

Interactive visualization system to analyze corrugated millimeter-waveguide component of ECH in nuclear fusion with FDTD simulation

International Nuclear Information System (INIS)

Kashima, N; Nakamura, H; Kubo, S; Tamura, Y; Ito, A M

2014-01-01

We have simulated distribution of electromagnetic waves through the system composed of miter bends by Finite-Difference Time-Domain (FDTD) simulation. We develop the interactive visualization system using a new interactive GUI system which is composed of the virtual reality system and android tablet to analyze the FDTD simulation. The effect of the waveguide system with grooves have been investigated to quantitatively by visualization system. Comparing waveguide system with grooves and without grooves, grooves have been confirmed to suppress the surface current at the metal surface. The surface current at complex shape such as the miter bend have been investigated

Interactive dual-volume rendering visualization with real-time fusion and transfer function enhancement

Science.gov (United States)

Macready, Hugh; Kim, Jinman; Feng, David; Cai, Weidong

2006-03-01

Dual-modality imaging scanners combining functional PET and anatomical CT constitute a challenge in volumetric visualization that can be limited by the high computational demand and expense. This study aims at providing physicians with multi-dimensional visualization tools, in order to navigate and manipulate the data running on a consumer PC. We have maximized the utilization of pixel-shader architecture of the low-cost graphic hardware and the texture-based volume rendering to provide visualization tools with high degree of interactivity. All the software was developed using OpenGL and Silicon Graphics Inc. Volumizer, tested on a Pentium mobile CPU on a PC notebook with 64M graphic memory. We render the individual modalities separately, and performing real-time per-voxel fusion. We designed a novel "alpha-spike" transfer function to interactively identify structure of interest from volume rendering of PET/CT. This works by assigning a non-linear opacity to the voxels, thus, allowing the physician to selectively eliminate or reveal information from the PET/CT volumes. As the PET and CT are rendered independently, manipulations can be applied to individual volumes, for instance, the application of transfer function to CT to reveal the lung boundary while adjusting the fusion ration between the CT and PET to enhance the contrast of a tumour region, with the resultant manipulated data sets fused together in real-time as the adjustments are made. In addition to conventional navigation and manipulation tools, such as scaling, LUT, volume slicing, and others, our strategy permits efficient visualization of PET/CT volume rendering which can potentially aid in interpretation and diagnosis.

Comparison of Antidepressant Efficacy-related SNPs Among Taiwanese and Four Populations in the HapMap Database

Directory of Open Access Journals (Sweden)

Mei-Hung Chi

2011-07-01

Full Text Available The genetic influence of single nucleotide polymorphisms (SNPs on antidepressant efficacy has been previously demonstrated. To evaluate whether there are ethnic differences, we compared the allele frequencies of antidepressant efficacy-related SNPs between the Taiwanese population and four other populations in the HapMap database. We recruited 198 Taiwanese major depression patients and 106 Taiwanese controls. A panel of possible relevant SNPs (in brain-derived neurotrophic factor, 5-hydroxytryptamine receptor 2A, interleukin 1 beta, and G-protein beta 3 subunit genes was selected for comparisons of allele frequencies using the χ2 test. Our results suggested no difference between Taiwanese patients and controls, but there were significant differences among Taiwanese controls and the other four ethnic groups in brain-derived neurotrophic factor, 5-hydroxytryptamine receptor 2A, interleukin 1 beta and G-protein beta 3 subunit genes. We conclude that there are ethnic differences in the allele frequencies of antidepressant efficacy-related SNPs, and that the degree of variations is consistent with geographic distances. Further investigation is required to verify the attribution of genetic differences to ethnic-specific antidepressant responses.

Competitive interactions of attentional resources in early visual cortex during sustained visuospatial attention within or between visual hemifields: evidence for the different-hemifield advantage.

Science.gov (United States)

Walter, Sabrina; Quigley, Cliodhna; Mueller, Matthias M

2014-05-01

Performing a task across the left and right visual hemifields results in better performance than in a within-hemifield version of the task, termed the different-hemifield advantage. Although recent studies used transient stimuli that were presented with long ISIs, here we used a continuous objective electrophysiological (EEG) measure of competitive interactions for attentional processing resources in early visual cortex, the steady-state visual evoked potential (SSVEP). We frequency-tagged locations in each visual quadrant and at central fixation by flickering light-emitting diodes (LEDs) at different frequencies to elicit distinguishable SSVEPs. Stimuli were presented for several seconds, and participants were cued to attend to two LEDs either in one (Within) or distributed across left and right visual hemifields (Across). In addition, we introduced two reference measures: one for suppressive interactions between the peripheral LEDs by using a task at fixation where attention was withdrawn from the periphery and another estimating the upper bound of SSVEP amplitude by cueing participants to attend to only one of the peripheral LEDs. We found significantly greater SSVEP amplitude modulations in Across compared with Within hemifield conditions. No differences were found between SSVEP amplitudes elicited by the peripheral LEDs when participants attended to the centrally located LEDs compared with when peripheral LEDs had to be ignored in Across and Within trials. Attending to only one LED elicited the same SSVEP amplitude as Across conditions. Although behavioral data displayed a more complex pattern, SSVEP amplitudes were well in line with the predictions of the different-hemifield advantage account during sustained visuospatial attention.

Art-Science-Technology collaboration through immersive, interactive 3D visualization

Science.gov (United States)

Kellogg, L. H.

2014-12-01

At the W. M. Keck Center for Active Visualization in Earth Sciences (KeckCAVES), a group of geoscientists and computer scientists collaborate to develop and use of interactive, immersive, 3D visualization technology to view, manipulate, and interpret data for scientific research. The visual impact of immersion in a CAVE environment can be extremely compelling, and from the outset KeckCAVES scientists have collaborated with artists to bring this technology to creative works, including theater and dance performance, installations, and gamification. The first full-fledged collaboration designed and produced a performance called "Collapse: Suddenly falling down", choreographed by Della Davidson, which investigated the human and cultural response to natural and man-made disasters. Scientific data (lidar scans of disaster sites, such as landslides and mine collapses) were fully integrated into the performance by the Sideshow Physical Theatre. This presentation will discuss both the technological and creative characteristics of, and lessons learned from the collaboration. Many parallels between the artistic and scientific process emerged. We observed that both artists and scientists set out to investigate a topic, solve a problem, or answer a question. Refining that question or problem is an essential part of both the creative and scientific workflow. Both artists and scientists seek understanding (in this case understanding of natural disasters). Differences also emerged; the group noted that the scientists sought clarity (including but not limited to quantitative measurements) as a means to understanding, while the artists embraced ambiguity, also as a means to understanding. Subsequent art-science-technology collaborations have responded to evolving technology for visualization and include gamification as a means to explore data, and use of augmented reality for informal learning in museum settings.

Development of a multiplex PCR assay detecting 52 autosomal SNPs

DEFF Research Database (Denmark)

Sanchez Sanchez, Juan Jose; Phillips, C.; Børsting, Claus

2006-01-01

for amplifying 52 genomic DNA fragments, each containing one SNP, in a single tube, and accurately genotyping the PCR product mixture using two single base extension reactions. This multiplex approach reduces the cost of SNP genotyping and requires as little as 0.5 ng of genomic DNA to detect 52 SNPs. We used...

Comparison of dogs and humans in visual scanning of social interaction

OpenAIRE

Törnqvist, Heini; Somppi, Sanni; Koskela, Aija; Krause, Christina M.; Vainio, Outi; Kujala, Miiamaaria V.

2015-01-01

Previous studies have demonstrated similarities in gazing behaviour of dogs and humans, but comparisons under similar conditions are rare, and little is known about dogs' visual attention to social scenes. Here, we recorded the eye gaze of dogs while they viewed images containing two humans or dogs either interacting socially or facing away: the results were compared with equivalent data measured from humans. Furthermore, we compared the gazing behaviour of two dog and two human populations w...

Multiresolution Algorithms for Processing Giga-Models: Real-time Visualization, Reasoning, and Interaction

Science.gov (United States)

2012-04-23

Interactive Virtual Hair Salon , Presence, (05 2007): 237. doi: 2012/04/17 12:55:26 31 Theodore Kim, Jason Sewall, Avneesh Sud, Ming Lin. Fast...in Games , Utrecht, Netherlands, Nov. 2009. Keynote Speaker, IADIS International Conference on Computer Graphics and Visualization, Portugal, June 2009...Keynote Speaker, ACM Symposium on Virtual Reality Software and Technology, Bordeaux, France, October 2008. Invited Speaker, Motion in Games , Utrecht

Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions

DEFF Research Database (Denmark)

Schoeps, Anja; Rudolph, Anja; Seibold, Petra

2014-01-01

recently proposed hybrid methods and a joint test of association and interaction. Analyses were adjusted for age, study, population stratification, and confounding factors as applicable. Three SNPs in two independent loci showed statistically significant association: SNPs rs10483028 and rs2242714......,475 cases and 34,786 controls of European ancestry from up to 23 studies in the Breast Cancer Association Consortium were included. Overall, 71,527 single nucleotide polymorphisms (SNPs), enriched for association with breast cancer, were tested for interaction with 10 environmental risk factors using three...... in perfect linkage disequilibrium on chromosome 21 and rs12197388 in ARID1B on chromosome 6. While rs12197388 was identified using the joint test with parity and with age at menarche (P-values = 3 × 10(-07)), the variants on chromosome 21 q22.12, which showed interaction with adult body mass index (BMI) in 8...

Interactive and dynamic visualizations in teaching and learning of anatomy: A cognitive load perspective.

NARCIS (Netherlands)

Khalil, M.K.; Paas, Fred; Johnson, T.E.; Payer, A.F.

2007-01-01

With the increasing use of computers in the classroom and the advancement of information technology, a requirement to investigate and evaluate different strategies for the presentation of verbal information in interactive and dynamic visualizations has risen to a high level of importance. There is a

Visual dot interaction with short-term memory.

Science.gov (United States)

Etindele Sosso, Faustin Armel

2017-06-01

Many neurodegenerative diseases have a memory component. Brain structures related to memory are affected by environmental stimuli, and it is difficult to dissociate effects of all behavior of neurons. Here, visual cortex of mice was stimulated with gratings and dot, and an observation of neuronal activity before and after was made. Bandwidth, firing rate and orientation selectivity index were evaluated. A primary communication between primary visual cortex and short-term memory appeared to show an interesting path to train cognitive circuitry and investigate the basics mechanisms of the neuronal learning. The findings also suggested the interplay between primary visual cortex and short-term plasticity. The properties inside a visual target shape the perception and affect the basic encoding. Using visual cortex, it may be possible to train the memory and improve the recovery of people with cognitive disabilities or memory deficit.

Enrichment of risk SNPs in regulatory regions implicate diverse tissues in Parkinson's disease etiology.

Science.gov (United States)

Coetzee, Simon G; Pierce, Steven; Brundin, Patrik; Brundin, Lena; Hazelett, Dennis J; Coetzee, Gerhard A

2016-07-27

Recent genome-wide association studies (GWAS) of Parkinson's disease (PD) revealed at least 26 risk loci, with associated single nucleotide polymorphisms (SNPs) located in non-coding DNA having unknown functions in risk. In order to explore in which cell types these SNPs (and their correlated surrogates at r(2) ≥ 0.8) could alter cellular function, we assessed their location overlap with histone modification regions that indicate transcription regulation in 77 diverse cell types. We found statistically significant enrichment of risk SNPs at 12 loci in active enhancers or promoters. We investigated 4 risk loci in depth that were most significantly enriched (-logeP > 14) and contained 8 putative enhancers in the different cell types. These enriched loci, along with eQTL associations, were unexpectedly present in non-neuronal cell types. These included lymphocytes, mesendoderm, liver- and fat-cells, indicating that cell types outside the brain are involved in the genetic predisposition to PD. Annotating regulatory risk regions within specific cell types may unravel new putative risk mechanisms and molecular pathways that contribute to PD development.

Teaching Play Skills to Visually Impaired Preschool Children: Its Effect on Social Interaction

Science.gov (United States)

Ozaydin, Latife

2015-01-01

The aim of this study is to assess the effects that teaching visually impaired (VI) preschool children play skills has on their abilities to initialize and respond to social interactions with their typically developing (TD) peers in a reverse mainstreaming preschool class. The subjects of the study were three female VI students regularly attending…

BAC-end sequence-based SNPs and Bin mapping for rapid integration of physical and genetic maps in apple.

Science.gov (United States)

Han, Yuepeng; Chagné, David; Gasic, Ksenija; Rikkerink, Erik H A; Beever, Jonathan E; Gardiner, Susan E; Korban, Schuyler S

2009-03-01

A genome-wide BAC physical map of the apple, Malus x domestica Borkh., has been recently developed. Here, we report on integrating the physical and genetic maps of the apple using a SNP-based approach in conjunction with bin mapping. Briefly, BAC clones located at ends of BAC contigs were selected, and sequenced at both ends. The BAC end sequences (BESs) were used to identify candidate SNPs. Subsequently, these candidate SNPs were genetically mapped using a bin mapping strategy for the purpose of mapping the physical onto the genetic map. Using this approach, 52 (23%) out of 228 BESs tested were successfully exploited to develop SNPs. These SNPs anchored 51 contigs, spanning approximately 37 Mb in cumulative physical length, onto 14 linkage groups. The reliability of the integration of the physical and genetic maps using this SNP-based strategy is described, and the results confirm the feasibility of this approach to construct an integrated physical and genetic maps for apple.

Learning Predictive Interactions Using Information Gain and Bayesian Network Scoring.

Directory of Open Access Journals (Sweden)

Xia Jiang

Full Text Available The problems of correlation and classification are long-standing in the fields of statistics and machine learning, and techniques have been developed to address these problems. We are now in the era of high-dimensional data, which is data that can concern billions of variables. These data present new challenges. In particular, it is difficult to discover predictive variables, when each variable has little marginal effect. An example concerns Genome-wide Association Studies (GWAS datasets, which involve millions of single nucleotide polymorphism (SNPs, where some of the SNPs interact epistatically to affect disease status. Towards determining these interacting SNPs, researchers developed techniques that addressed this specific problem. However, the problem is more general, and so these techniques are applicable to other problems concerning interactions. A difficulty with many of these techniques is that they do not distinguish whether a learned interaction is actually an interaction or whether it involves several variables with strong marginal effects.We address this problem using information gain and Bayesian network scoring. First, we identify candidate interactions by determining whether together variables provide more information than they do separately. Then we use Bayesian network scoring to see if a candidate interaction really is a likely model. Our strategy is called MBS-IGain. Using 100 simulated datasets and a real GWAS Alzheimer's dataset, we investigated the performance of MBS-IGain.When analyzing the simulated datasets, MBS-IGain substantially out-performed nine previous methods at locating interacting predictors, and at identifying interactions exactly. When analyzing the real Alzheimer's dataset, we obtained new results and results that substantiated previous findings. We conclude that MBS-IGain is highly effective at finding interactions in high-dimensional datasets. This result is significant because we have increasingly

Design of a High Density SNP Genotyping Assay in the Pig Using SNPs Identified and Characterized by Next Generation Sequencing Technology

Science.gov (United States)

Ramos, Antonio M.; Crooijmans, Richard P. M. A.; Affara, Nabeel A.; Amaral, Andreia J.; Archibald, Alan L.; Beever, Jonathan E.; Bendixen, Christian; Churcher, Carol; Clark, Richard; Dehais, Patrick; Hansen, Mark S.; Hedegaard, Jakob; Hu, Zhi-Liang; Kerstens, Hindrik H.; Law, Andy S.; Megens, Hendrik-Jan; Milan, Denis; Nonneman, Danny J.; Rohrer, Gary A.; Rothschild, Max F.; Smith, Tim P. L.; Schnabel, Robert D.; Van Tassell, Curt P.; Taylor, Jeremy F.; Wiedmann, Ralph T.; Schook, Lawrence B.; Groenen, Martien A. M.

2009-01-01

Background The dissection of complex traits of economic importance to the pig industry requires the availability of a significant number of genetic markers, such as single nucleotide polymorphisms (SNPs). This study was conducted to discover several hundreds of thousands of porcine SNPs using next generation sequencing technologies and use these SNPs, as well as others from different public sources, to design a high-density SNP genotyping assay. Methodology/Principal Findings A total of 19 reduced representation libraries derived from four swine breeds (Duroc, Landrace, Large White, Pietrain) and a Wild Boar population and three restriction enzymes (AluI, HaeIII and MspI) were sequenced using Illumina's Genome Analyzer (GA). The SNP discovery effort resulted in the de novo identification of over 372K SNPs. More than 549K SNPs were used to design the Illumina Porcine 60K+SNP iSelect Beadchip, now commercially available as the PorcineSNP60. A total of 64,232 SNPs were included on the Beadchip. Results from genotyping the 158 individuals used for sequencing showed a high overall SNP call rate (97.5%). Of the 62,621 loci that could be reliably scored, 58,994 were polymorphic yielding a SNP conversion success rate of 94%. The average minor allele frequency (MAF) for all scorable SNPs was 0.274. Conclusions/Significance Overall, the results of this study indicate the utility of using next generation sequencing technologies to identify large numbers of reliable SNPs. In addition, the validation of the PorcineSNP60 Beadchip demonstrated that the assay is an excellent tool that will likely be used in a variety of future studies in pigs. PMID:19654876

Building Interactive Visualizations for Geochronological Data

Science.gov (United States)

Zeringue, J.; Bowring, J. F.; McLean, N. M.; Pastor, F.

2014-12-01

Since the early 1990s, Ken Ludwig's Isoplot software has been the tool of choice for visualization and analysis of isotopic data used for geochronology. The software is an add-in to Microsoft Excel that allows users to generate visual representations of data. However, recent changes to Excel have made Isoplot more difficult to use and maintain, and the software is no longer supported. In the last several years, the Cyber Infrastructure Research and Development Lab for the Earth Sciences (CIRDLES), at the College of Charleston, has worked collaboratively with geochronologists to develop U-Pb_Redux, a software product that provides some of Isoplot's functionality for U-Pb geochronology. However, the community needs a full and complete Isoplot replacement that is open source, platform independent, and not dependent on proprietary software. This temporary lapse in tooling also presents a tremendous opportunity for scientific computing in the earth sciences. When Isoplot was written for Excel, it gained much of the platform's flexibility and power but also was burdened with its limitations. For example, Isoplot could not be used outside of Excel, could not be cross-platform (so long as Excel wasn't), could not be embedded in other applications, and only static images could be produced. Nonetheless this software was and still is a powerful tool that has served the community for more than two decades and the trade-offs were more than acceptable. In 2014, we seek to gain flexibility not available with Excel. We propose that the next generation of charting software be reusable, platform-agnostic, and interactive. This new software should allow scientists to easily explore—not just passively view—their data. Beginning in the fall of 2013, researchers at CIRDLES began planning for and prototyping a 21st-century replacement for Isoplot, which we call Topsoil, an anagram of Isoplot. This work is being conducted in the public domain at https://github.com/CIRDLES/topsoil. We

Towards Online Visualization and Interactive Monitoring of Real-Time CFD Simulations on Commodity Hardware

Directory of Open Access Journals (Sweden)

Nils Koliha

2015-09-01

Full Text Available Real-time rendering in the realm of computational fluid dynamics (CFD in particular and scientific high performance computing (HPC in general is a comparably young field of research, as the complexity of most problems with practical relevance is too high for a real-time numerical simulation. However, recent advances in HPC and the development of very efficient numerical techniques allow running first optimized numerical simulations in or near real-time, which in return requires integrated and optimized visualization techniques that do not affect performance. In this contribution, we present concepts, implementation details and several application examples of a minimally-invasive, efficient visualization tool for the interactive monitoring of 2D and 3D turbulent flow simulations on commodity hardware. The numerical simulations are conducted with ELBE, an efficient lattice Boltzmann environment based on NVIDIA CUDA (Compute Unified Device Architecture, which provides optimized numerical kernels for 2D and 3D computational fluid dynamics with fluid-structure interactions and turbulence.

Visual patient records

NARCIS (Netherlands)

Luu, M.D.

2015-01-01

Patient information is often complex and fragmented; visualization can help to obtain and communicate insights. To move from paper medical records to interactive and visual patient records is a big challenge. This project aims to move towards this ultimate goal by providing an interactive prototype

Attention Modulates Visual-Tactile Interaction in Spatial Pattern Matching

Science.gov (United States)

Göschl, Florian; Engel, Andreas K.; Friese, Uwe

2014-01-01

Factors influencing crossmodal interactions are manifold and operate in a stimulus-driven, bottom-up fashion, as well as via top-down control. Here, we evaluate the interplay of stimulus congruence and attention in a visual-tactile task. To this end, we used a matching paradigm requiring the identification of spatial patterns that were concurrently presented visually on a computer screen and haptically to the fingertips by means of a Braille stimulator. Stimulation in our paradigm was always bimodal with only the allocation of attention being manipulated between conditions. In separate blocks of the experiment, participants were instructed to (a) focus on a single modality to detect a specific target pattern, (b) pay attention to both modalities to detect a specific target pattern, or (c) to explicitly evaluate if the patterns in both modalities were congruent or not. For visual as well as tactile targets, congruent stimulus pairs led to quicker and more accurate detection compared to incongruent stimulation. This congruence facilitation effect was more prominent under divided attention. Incongruent stimulation led to behavioral decrements under divided attention as compared to selectively attending a single sensory channel. Additionally, when participants were asked to evaluate congruence explicitly, congruent stimulation was associated with better performance than incongruent stimulation. Our results extend previous findings from audiovisual studies, showing that stimulus congruence also resulted in behavioral improvements in visuotactile pattern matching. The interplay of stimulus processing and attentional control seems to be organized in a highly flexible fashion, with the integration of signals depending on both bottom-up and top-down factors, rather than occurring in an ‘all-or-nothing’ manner. PMID:25203102

Attention modulates visual-tactile interaction in spatial pattern matching.

Directory of Open Access Journals (Sweden)

Florian Göschl

Full Text Available Factors influencing crossmodal interactions are manifold and operate in a stimulus-driven, bottom-up fashion, as well as via top-down control. Here, we evaluate the interplay of stimulus congruence and attention in a visual-tactile task. To this end, we used a matching paradigm requiring the identification of spatial patterns that were concurrently presented visually on a computer screen and haptically to the fingertips by means of a Braille stimulator. Stimulation in our paradigm was always bimodal with only the allocation of attention being manipulated between conditions. In separate blocks of the experiment, participants were instructed to (a focus on a single modality to detect a specific target pattern, (b pay attention to both modalities to detect a specific target pattern, or (c to explicitly evaluate if the patterns in both modalities were congruent or not. For visual as well as tactile targets, congruent stimulus pairs led to quicker and more accurate detection compared to incongruent stimulation. This congruence facilitation effect was more prominent under divided attention. Incongruent stimulation led to behavioral decrements under divided attention as compared to selectively attending a single sensory channel. Additionally, when participants were asked to evaluate congruence explicitly, congruent stimulation was associated with better performance than incongruent stimulation. Our results extend previous findings from audiovisual studies, showing that stimulus congruence also resulted in behavioral improvements in visuotactile pattern matching. The interplay of stimulus processing and attentional control seems to be organized in a highly flexible fashion, with the integration of signals depending on both bottom-up and top-down factors, rather than occurring in an 'all-or-nothing' manner.

Comparison of dogs and humans in visual scanning of social interaction.

Science.gov (United States)

Törnqvist, Heini; Somppi, Sanni; Koskela, Aija; Krause, Christina M; Vainio, Outi; Kujala, Miiamaaria V

2015-09-01

Previous studies have demonstrated similarities in gazing behaviour of dogs and humans, but comparisons under similar conditions are rare, and little is known about dogs' visual attention to social scenes. Here, we recorded the eye gaze of dogs while they viewed images containing two humans or dogs either interacting socially or facing away: the results were compared with equivalent data measured from humans. Furthermore, we compared the gazing behaviour of two dog and two human populations with different social experiences: family and kennel dogs; dog experts and non-experts. Dogs' gazing behaviour was similar to humans: both species gazed longer at the actors in social interaction than in non-social images. However, humans gazed longer at the actors in dog than human social interaction images, whereas dogs gazed longer at the actors in human than dog social interaction images. Both species also made more saccades between actors in images representing non-conspecifics, which could indicate that processing social interaction of non-conspecifics may be more demanding. Dog experts and non-experts viewed the images very similarly. Kennel dogs viewed images less than family dogs, but otherwise their gazing behaviour did not differ, indicating that the basic processing of social stimuli remains similar regardless of social experiences.

118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

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Shaw Gary M

2009-06-01

Full Text Available Abstract Background Folic acid taken in early pregnancy reduces risks for delivering offspring with several congenital anomalies. The mechanism by which folic acid reduces risk is unknown. Investigations into genetic variation that influences transport and metabolism of folate will help fill this data gap. We focused on 118 SNPs involved in folate transport and metabolism. Methods Using data from a California population-based registry, we investigated whether risks of spina bifida or conotruncal heart defects were influenced by 118 single nucleotide polymorphisms (SNPs associated with the complex folate pathway. This case-control study included 259 infants with spina bifida and a random sample of 359 nonmalformed control infants born during 1983–86 or 1994–95. It also included 214 infants with conotruncal heart defects born during 1983–86. Infant genotyping was performed blinded to case or control status using a designed SNPlex assay. We examined single SNP effects for each of the 118 SNPs, as well as haplotypes, for each of the two outcomes. Results Few odds ratios (ORs revealed sizable departures from 1.0. With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous relative to the reference genotype: BHMT (rs3733890 OR = 1.8 (1.1–3.1, CBS (rs2851391 OR = 2.0 (1.2–3.1; CBS (rs234713 OR = 2.9 (1.3–6.7; MTHFD1 (rs2236224 OR = 1.7 (1.1–2.7; MTHFD1 (hcv11462908 OR = 0.2 (0–0.9; MTHFD2 (rs702465 OR = 0.6 (0.4–0.9; MTHFD2 (rs7571842 OR = 0.6 (0.4–0.9; MTHFR (rs1801133 OR = 2.0 (1.2–3.1; MTRR (rs162036 OR = 3.0 (1.5–5.9; MTRR (rs10380 OR = 3.4 (1.6–7.1; MTRR (rs1801394 OR = 0.7 (0.5–0.9; MTRR (rs9332 OR = 2.7 (1.3–5.3; TYMS (rs2847149 OR = 2.2 (1.4–3.5; TYMS (rs1001761 OR = 2.4 (1.5–3.8; and TYMS (rs502396 OR = 2.1 (1.3–3.3. However, multiple SNPs observed for a given gene showed evidence of linkage disequilibrium indicating

Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.

Directory of Open Access Journals (Sweden)

Sara Lindstrom

2011-02-01

Full Text Available Genome-wide association studies (GWAS have identified multiple single nucleotide polymorphisms (SNPs associated with prostate cancer risk. However, whether these associations can be consistently replicated, vary with disease aggressiveness (tumor stage and grade and/or interact with non-genetic potential risk factors or other SNPs is unknown. We therefore genotyped 39 SNPs from regions identified by several prostate cancer GWAS in 10,501 prostate cancer cases and 10,831 controls from the NCI Breast and Prostate Cancer Cohort Consortium (BPC3. We replicated 36 out of 39 SNPs (P-values ranging from 0.01 to 10⁻²⁸. Two SNPs located near KLK3 associated with PSA levels showed differential association with Gleason grade (rs2735839, P = 0.0001 and rs266849, P = 0.0004; case-only test, where the alleles associated with decreasing PSA levels were inversely associated with low-grade (as defined by Gleason grade < 8 tumors but positively associated with high-grade tumors. No other SNP showed differential associations according to disease stage or grade. We observed no effect modification by SNP for association with age at diagnosis, family history of prostate cancer, diabetes, BMI, height, smoking or alcohol intake. Moreover, we found no evidence of pair-wise SNP-SNP interactions. While these SNPs represent new independent risk factors for prostate cancer, we saw little evidence for effect modification by other SNPs or by the environmental factors examined.

PCA-based bootstrap confidence interval tests for gene-disease association involving multiple SNPs

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Xue Fuzhong

2010-01-01

Full Text Available Abstract Background Genetic association study is currently the primary vehicle for identification and characterization of disease-predisposing variant(s which usually involves multiple single-nucleotide polymorphisms (SNPs available. However, SNP-wise association tests raise concerns over multiple testing. Haplotype-based methods have the advantage of being able to account for correlations between neighbouring SNPs, yet assuming Hardy-Weinberg equilibrium (HWE and potentially large number degrees of freedom can harm its statistical power and robustness. Approaches based on principal component analysis (PCA are preferable in this regard but their performance varies with methods of extracting principal components (PCs. Results PCA-based bootstrap confidence interval test (PCA-BCIT, which directly uses the PC scores to assess gene-disease association, was developed and evaluated for three ways of extracting PCs, i.e., cases only(CAES, controls only(COES and cases and controls combined(CES. Extraction of PCs with COES is preferred to that with CAES and CES. Performance of the test was examined via simulations as well as analyses on data of rheumatoid arthritis and heroin addiction, which maintains nominal level under null hypothesis and showed comparable performance with permutation test. Conclusions PCA-BCIT is a valid and powerful method for assessing gene-disease association involving multiple SNPs.

Interactive Football-Training Based on Rebounders with Hit Position Sensing and Audio-Visual Feedback

DEFF Research Database (Denmark)

Jensen, Mads Møller; Grønbæk, Kaj; Thomassen, Nikolaj

2014-01-01

. However, most of these tools are created with a single goal, either to measure or train, and are often used and tested in very controlled settings. In this paper, we present an interactive football-training platform, called Football Lab, featuring sensor- mounted rebounders as well as audio-visual...

Gene-environment interaction involving recently identified colorectal cancer susceptibility loci

Science.gov (United States)

Kantor, Elizabeth D.; Hutter, Carolyn M.; Minnier, Jessica; Berndt, Sonja I.; Brenner, Hermann; Caan, Bette J.; Campbell, Peter T.; Carlson, Christopher S.; Casey, Graham; Chan, Andrew T.; Chang-Claude, Jenny; Chanock, Stephen J.; Cotterchio, Michelle; Du, Mengmeng; Duggan, David; Fuchs, Charles S.; Giovannucci, Edward L.; Gong, Jian; Harrison, Tabitha A.; Hayes, Richard B.; Henderson, Brian E.; Hoffmeister, Michael; Hopper, John L.; Jenkins, Mark A.; Jiao, Shuo; Kolonel, Laurence N.; Le Marchand, Loic; Lemire, Mathieu; Ma, Jing; Newcomb, Polly A.; Ochs-Balcom, Heather M.; Pflugeisen, Bethann M.; Potter, John D.; Rudolph, Anja; Schoen, Robert E.; Seminara, Daniela; Slattery, Martha L.; Stelling, Deanna L.; Thomas, Fridtjof; Thornquist, Mark; Ulrich, Cornelia M.; Warnick, Greg S.; Zanke, Brent W.; Peters, Ulrike; Hsu, Li; White, Emily

2014-01-01

BACKGROUND Genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) that are associated with risk of colorectal cancer (CRC). Prior research has evaluated the presence of gene-environment interaction involving the first 10 identified susceptibility loci, but little work has been conducted on interaction involving SNPs at recently identified susceptibility loci, including: rs10911251, rs6691170, rs6687758, rs11903757, rs10936599, rs647161, rs1321311, rs719725, rs1665650, rs3824999, rs7136702, rs11169552, rs59336, rs3217810, rs4925386, and rs2423279. METHODS Data on 9160 cases and 9280 controls from the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) and Colon Cancer Family Registry (CCFR) were used to evaluate the presence of interaction involving the above-listed SNPs and sex, body mass index (BMI), alcohol consumption, smoking, aspirin use, post-menopausal hormone (PMH) use, as well as intake of dietary calcium, dietary fiber, dietary folate, red meat, processed meat, fruit, and vegetables. Interaction was evaluated using a fixed-effects meta-analysis of an efficient Empirical Bayes estimator, and permutation was used to account for multiple comparisons. RESULTS None of the permutation-adjusted p-values reached statistical significance. CONCLUSIONS The associations between recently identified genetic susceptibility loci and CRC are not strongly modified by sex, BMI, alcohol, smoking, aspirin, PMH use, and various dietary factors. IMPACT Results suggest no evidence of strong gene-environment interactions involving the recently identified 16 susceptibility loci for CRC taken one at a time. PMID:24994789

Crossmodal influences on visual perception

Science.gov (United States)

Shams, Ladan; Kim, Robyn

2010-09-01

Vision is generally considered the dominant sensory modality; self-contained and independent of other senses. In this article, we will present recent results that contradict this view, and show that visual perception can be strongly altered by sound and touch, and such alterations can occur even at early stages of processing, as early as primary visual cortex. We will first review the behavioral evidence demonstrating modulation of visual perception by other modalities. As extreme examples of such modulations, we will describe two visual illusions induced by sound, and a visual illusion induced by touch. Next, we will discuss studies demonstrating modulation of activity in visual areas by stimulation of other modalities, and discuss possible pathways that could underpin such interactions. This will be followed by a discussion of how crossmodal interactions can affect visual learning and adaptation. We will review several studies showing crossmodal effects on visual learning. We will conclude with a discussion of computational principles governing these crossmodal interactions, and review several recent studies that demonstrate that these interactions are statistically optimal.

Transcriptome-Wide Single Nucleotide Polymorphisms (SNPs for Abalone (Haliotis midae: Validation and Application Using GoldenGate Medium-Throughput Genotyping Assays

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Rouvay Roodt-Wilding

2013-09-01

Full Text Available Haliotis midae is one of the most valuable commercial abalone species in the world, but is highly vulnerable, due to exploitation, habitat destruction and predation. In order to preserve wild and cultured stocks, genetic management and improvement of the species has become crucial. Fundamental to this is the availability and employment of molecular markers, such as microsatellites and Single Nucleotide Polymorphisms (SNPs . Transcriptome sequences generated through sequencing-by-synthesis technology were utilized for the in vitro and in silico identification of 505 putative SNPs from a total of 316 selected contigs. A subset of 234 SNPs were further validated and characterized in wild and cultured abalone using two Illumina GoldenGate genotyping assays. Combined with VeraCode technology, this genotyping platform yielded a 65%−69% conversion rate (percentage polymorphic markers with a global genotyping success rate of 76%−85% and provided a viable means for validating SNP markers in a non-model species. The utility of 31 of the validated SNPs in population structure analysis was confirmed, while a large number of SNPs (174 were shown to be informative and are, thus, good candidates for linkage map construction. The non-synonymous SNPs (50 located in coding regions of genes that showed similarities with known proteins will also be useful for genetic applications, such as the marker-assisted selection of genes of relevance to abalone aquaculture.

Transcriptome-wide single nucleotide polymorphisms (SNPs) for abalone (Haliotis midae): validation and application using GoldenGate medium-throughput genotyping assays.

Science.gov (United States)

Bester-Van Der Merwe, Aletta; Blaauw, Sonja; Du Plessis, Jana; Roodt-Wilding, Rouvay

2013-09-23

Haliotis midae is one of the most valuable commercial abalone species in the world, but is highly vulnerable, due to exploitation, habitat destruction and predation. In order to preserve wild and cultured stocks, genetic management and improvement of the species has become crucial. Fundamental to this is the availability and employment of molecular markers, such as microsatellites and single nucleotide (SNPs). Transcriptome sequences generated through sequencing-by-synthesis technology were utilized for the in vitro and in silico identification of 505 putative SNPs from a total of 316 selected contigs. A subset of 234 SNPs were further validated and characterized in wild and cultured abalone using two Illumina GoldenGate genotyping assays. Combined with VeraCode technology, this genotyping platform yielded a 65%-69% conversion rate (percentage polymorphic markers) with a global genotyping success rate of 76%-85% and provided a viable means for validating SNP markers in a non-model species. The utility of 31 of the validated SNPs in population structure analysis was confirmed, while a large number of SNPs (174) were shown to be informative and are, thus, good candidates for linkage map construction. The non-synonymous SNPs (50) located in coding regions of genes that showed similarities with known proteins will also be useful for genetic applications, such as the marker-assisted selection of genes of relevance to abalone aquaculture.

Identification of novel single nucleotide polymorphisms (SNPs in deer (Odocoileus spp. using the BovineSNP50 BeadChip.

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Gwilym D Haynes

Full Text Available Single nucleotide polymorphisms (SNPs are growing in popularity as a genetic marker for investigating evolutionary processes. A panel of SNPs is often developed by comparing large quantities of DNA sequence data across multiple individuals to identify polymorphic sites. For non-model species, this is particularly difficult, as performing the necessary large-scale genomic sequencing often exceeds the resources available for the project. In this study, we trial the Bovine SNP50 BeadChip developed in cattle (Bos taurus for identifying polymorphic SNPs in cervids Odocoileus hemionus (mule deer and black-tailed deer and O. virginianus (white-tailed deer in the Pacific Northwest. We found that 38.7% of loci could be genotyped, of which 5% (n = 1068 were polymorphic. Of these 1068 polymorphic SNPs, a mixture of putatively neutral loci (n = 878 and loci under selection (n = 190 were identified with the F(ST-outlier method. A range of population genetic analyses were implemented using these SNPs and a panel of 10 microsatellite loci. The three types of deer could readily be distinguished with both the SNP and microsatellite datasets. This study demonstrates that commercially developed SNP chips are a viable means of SNP discovery for non-model organisms, even when used between very distantly related species (the Bovidae and Cervidae families diverged some 25.1-30.1 million years before present.

APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women

LENUS (Irish Health Repository)

Sedano-Balbas, Sara

2010-03-10

Abstract Background Activated Protein C Resistance (APCR), a poor anticoagulant response of APC in haemostasis, is the commonest heritable thrombophilia. Adverse outcomes during pregnancy have been linked to APCR. This study determined the frequency of APCR, factor V gene known and novel SNPs and adverse outcomes in a group of pregnant women. Methods Blood samples collected from 907 pregnant women were tested using the Coatest® Classic and Modified functional haematological tests to establish the frequency of APCR. PCR-Restriction Enzyme Analysis (PCR-REA), PCR-DNA probe hybridisation analysis and DNA sequencing were used for molecular screening of known mutations in the factor V gene in subjects determined to have APCR based on the Coatest® Classic and\\/or Modified functional haematological tests. Glycosylase Mediated Polymorphism Detection (GMPD), a SNP screening technique and DNA sequencing, were used to identify SNPs in the factor V gene of 5 APCR subjects. Results Sixteen percent of the study group had an APCR phenotype. Factor V Leiden (FVL), FV Cambridge, and haplotype (H) R2 alleles were identified in this group. Thirty-three SNPs; 9 silent SNPs and 24 missense SNPs, of which 20 SNPs were novel, were identified in the 5 APCR subjects. Adverse pregnancy outcomes were found at a frequency of 35% in the group with APCR based on Classic Coatest® test only and at 45% in the group with APCR based on the Modified Coatest® test. Forty-eight percent of subjects with FVL had adverse outcomes while in the group of subjects with no FVL, adverse outcomes occurred at a frequency of 37%. Conclusions Known mutations and novel SNPs in the factor V gene were identified in the study cohort determined to have APCR in pregnancy. Further studies are required to investigate the contribution of these novel SNPs to the APCR phenotype. Adverse outcomes including early pregnancy loss (EPL), preeclampsia (PET) and intrauterine growth restriction (IGUR) were not significantly more

Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women

International Nuclear Information System (INIS)

Dyke, A. L. V.

2009-01-01

In a population-based case-control study, we explored the associations between 42 polymorphisms in seven genes in this region and non-small cell lung cancer (NSCLC) risk among Caucasian (364 cases; 380 controls) and African American (95 cases; 103 controls) women. Two TERT region SNPs, rs2075786 and rs2853677, conferred an increased risk of developing NSCLC, especially among African American women, and TERT-rs2735940 was associated with a decreased risk of lung cancer among African Americans. Five of the 20 GHR polymorphisms and SEPP1-rs6413428 were associated with a marginally increased risk of NSCLC among Caucasians. Random forest analysis reinforced the importance of GHR among Caucasians and identified AMACR, TERT, and GHR among African Americans, which were also significant using gene-based risk scores. Smoking-SNP interactions were explored, and haplotype in TERT and GHR associated with NSCLC risk were identified. The roles of TERT, GHR, AMACR and SEPP1 genes in lung carcinogenesis warrant further exploration

VisComposer: A Visual Programmable Composition Environment for Information Visualization

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Honghui Mei

2018-03-01

Full Text Available As the amount of data being collected has increased, the need for tools that can enable the visual exploration of data has also grown. This has led to the development of a variety of widely used programming frameworks for information visualization. Unfortunately, such frameworks demand comprehensive visualization and coding skills and require users to develop visualization from scratch. An alternative is to create interactive visualization design environments that require little to no programming. However, these tools only supports a small portion of visual forms.We present a programmable integrated development environment (IDE, VisComposer, that supports the development of expressive visualization using a drag-and-drop visual interface. VisComposer exposes the programmability by customizing desired components within a modularized visualization composition pipeline, effectively balancing the capability gap between expert coders and visualization artists. The implemented system empowers users to compose comprehensive visualizations with real-time preview and optimization features, and supports prototyping, sharing and reuse of the effects by means of an intuitive visual composer. Visual programming and textual programming integrated in our system allow users to compose more complex visual effects while retaining the simplicity of use. We demonstrate the performance of VisComposer with a variety of examples and an informal user evaluation. Keywords: Information Visualization, Visualization authoring, Interactive development environment

Continued use of an interactive computer game-based visual perception learning system in children with developmental delay.

Science.gov (United States)

Lin, Hsien-Cheng; Chiu, Yu-Hsien; Chen, Yenming J; Wuang, Yee-Pay; Chen, Chiu-Ping; Wang, Chih-Chung; Huang, Chien-Ling; Wu, Tang-Meng; Ho, Wen-Hsien

2017-11-01

This study developed an interactive computer game-based visual perception learning system for special education children with developmental delay. To investigate whether perceived interactivity affects continued use of the system, this study developed a theoretical model of the process in which learners decide whether to continue using an interactive computer game-based visual perception learning system. The technology acceptance model, which considers perceived ease of use, perceived usefulness, and perceived playfulness, was extended by integrating perceived interaction (i.e., learner-instructor interaction and learner-system interaction) and then analyzing the effects of these perceptions on satisfaction and continued use. Data were collected from 150 participants (rehabilitation therapists, medical paraprofessionals, and parents of children with developmental delay) recruited from a single medical center in Taiwan. Structural equation modeling and partial-least-squares techniques were used to evaluate relationships within the model. The modeling results indicated that both perceived ease of use and perceived usefulness were positively associated with both learner-instructor interaction and learner-system interaction. However, perceived playfulness only had a positive association with learner-system interaction and not with learner-instructor interaction. Moreover, satisfaction was positively affected by perceived ease of use, perceived usefulness, and perceived playfulness. Thus, satisfaction positively affects continued use of the system. The data obtained by this study can be applied by researchers, designers of computer game-based learning systems, special education workers, and medical professionals. Copyright © 2017 Elsevier B.V. All rights reserved.

Visualized and Interacted Life: Personal Analytics and Engagements with Data Doubles

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Minna Ruckenstein

2014-02-01

Full Text Available A field of personal analytics has emerged around self-monitoring practices, which includes the visualization and interpretation of the data produced. This paper explores personal analytics from the perspective of self-optimization, arguing that the ways in which people confront and engage with visualized personal data are as significant as the technology itself. The paper leans on the concept of the “data double”: the conversion of human bodies and minds into data flows that can be figuratively reassembled for the purposes of personal reflection and interaction. Based on an empirical study focusing on heart-rate variability measurement, the discussion underlines that a distanced theorizing of personal analytics is not sufficient if one wants to capture affective encounters between humans and their data doubles. Research outcomes suggest that these explanations can produce permanence and stability while also profoundly changing ways in which people reflect on themselves, on others and on their daily lives.

Association of peroxisome proliferator-activated receptor single-nucleotide polymorphisms and gene-gene interactions with the lipoprotein(a)

Institute of Scientific and Technical Information of China (English)

解惠坚

2014-01-01

Objective To examine the associations of 10 singlenucleotide polymorphisms(SNPs)in peroxisome proliferator-activated receptor(PPARs)gene with lipoprotein(a)level,and to investigate if there is gene-gene interaction among the SNPs on lipoprotein(a)level.Methods Totally 644 subjects(234 men and 410 women)were enrolled from Prevention of Multiple Metabolic Disorders and Metabolic Syndrome Study Cohort,which was an urban community survey study conducted in Jiangsu province.Ten SNPs in PPARα(rs135539,rs4253778,

Non-Synonymous Single-Nucleotide Polymorphisms and Physical Activity Interactions on Adiposity Parameters in Malaysian Adolescents

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Nur Lisa Zaharan

2018-04-01

Full Text Available BackgroundSeveral non-synonymous single-nucleotide polymorphisms (nsSNPs have been shown to be associated with obesity. Little is known about their associations and interactions with physical activity (PA in relation to adiposity parameters among adolescents in Malaysia.MethodsWe examined whether (a PA and (b selected nsSNPs are associated with adiposity parameters and whether PA interacts with these nsSNPs on these outcomes in adolescents from the Malaysian Health and Adolescents Longitudinal Research Team study (n = 1,151. Body mass indices, waist–hip ratio, and percentage body fat (% BF were obtained. PA was assessed using Physical Activity Questionnaire for Older Children (PAQ-C. Five nsSNPs were included: beta-3 adrenergic receptor (ADRB3 rs4994, FABP2 rs1799883, GHRL rs696217, MC3R rs3827103, and vitamin D receptor rs2228570, individually and as combined genetic risk score (GRS. Associations and interactions between nsSNPs and PAQ-C scores were examined using generalized linear model.ResultsPAQ-C scores were associated with % BF (β = −0.44 [95% confidence interval −0.72, −0.16], p = 0.002. The CC genotype of ADRB3 rs4994 (β = −0.16 [−0.28, −0.05], corrected p = 0.01 and AA genotype of MC3R rs3827103 (β = −0.06 [−0.12, −0.00], p = 0.02 were significantly associated with % BF compared to TT and GG genotypes, respectively. Significant interactions with PA were found between ADRB3 rs4994 (β = −0.05 [−0.10, −0.01], p = 0.02 and combined GRS (β = −0.03 [−0.04, −0.01], p = 0.01 for % BF.ConclusionHigher PA score was associated with reduced % BF in Malaysian adolescents. Of the nsSNPs, ADRB3 rs4994 and MC3R rs3827103 were associated with % BF. Significant interactions with PA were found for ADRB3 rs4994 and combined GRS on % BF but not on measurements of weight or circumferences. Targeting body fat represent prospects for molecular studies and lifestyle intervention

Non-Synonymous Single-Nucleotide Polymorphisms and Physical Activity Interactions on Adiposity Parameters in Malaysian Adolescents.

Science.gov (United States)

Zaharan, Nur Lisa; Muhamad, Nor Hanisah; Jalaludin, Muhammad Yazid; Su, Tin Tin; Mohamed, Zahurin; Mohamed, M N A; A Majid, Hazreen

2018-01-01

Several non-synonymous single-nucleotide polymorphisms (nsSNPs) have been shown to be associated with obesity. Little is known about their associations and interactions with physical activity (PA) in relation to adiposity parameters among adolescents in Malaysia. We examined whether (a) PA and (b) selected nsSNPs are associated with adiposity parameters and whether PA interacts with these nsSNPs on these outcomes in adolescents from the Malaysian Health and Adolescents Longitudinal Research Team study ( n  = 1,151). Body mass indices, waist-hip ratio, and percentage body fat (% BF) were obtained. PA was assessed using Physical Activity Questionnaire for Older Children (PAQ-C). Five nsSNPs were included: beta-3 adrenergic receptor (ADRB3) rs4994, FABP2 rs1799883, GHRL rs696217, MC3R rs3827103, and vitamin D receptor rs2228570, individually and as combined genetic risk score (GRS). Associations and interactions between nsSNPs and PAQ-C scores were examined using generalized linear model. PAQ-C scores were associated with % BF (β = -0.44 [95% confidence interval -0.72, -0.16], p  = 0.002). The CC genotype of ADRB3 rs4994 (β = -0.16 [-0.28, -0.05], corrected p  = 0.01) and AA genotype of MC3R rs3827103 (β = -0.06 [-0.12, -0.00], p  = 0.02) were significantly associated with % BF compared to TT and GG genotypes, respectively. Significant interactions with PA were found between ADRB3 rs4994 (β = -0.05 [-0.10, -0.01], p  = 0.02) and combined GRS (β = -0.03 [-0.04, -0.01], p  = 0.01) for % BF. Higher PA score was associated with reduced % BF in Malaysian adolescents. Of the nsSNPs, ADRB3 rs4994 and MC3R rs3827103 were associated with % BF. Significant interactions with PA were found for ADRB3 rs4994 and combined GRS on % BF but not on measurements of weight or circumferences. Targeting body fat represent prospects for molecular studies and lifestyle intervention in this population.

SNPs in genes implicated in radiation response are associated with radiotoxicity and evoke roles as predictive and prognostic biomarkers

International Nuclear Information System (INIS)

Alsbeih, Ghazi; El-Sebaie, Medhat; Al-Harbi, Najla; Al-Hadyan, Khaled; Shoukri, Mohamed; Al-Rajhi, Nasser

2013-01-01

Biomarkers are needed to individualize cancer radiation treatment. Therefore, we have investigated the association between various risk factors, including single nucleotide polymorphisms (SNPs) in candidate genes and late complications to radiotherapy in our nasopharyngeal cancer patients. A cohort of 155 patients was included. Normal tissue fibrosis was scored using RTOG/EORTC grading system. A total of 45 SNPs in 11 candidate genes (ATM, XRCC1, XRCC3, XRCC4, XRCC5, PRKDC, LIG4, TP53, HDM2, CDKN1A, TGFB1) were genotyped by direct genomic DNA sequencing. Patients with severe fibrosis (cases, G3-4, n = 48) were compared to controls (G0-2, n = 107). Univariate analysis showed significant association (P < 0.05) with radiation complications for 6 SNPs (ATM G/A rs1801516, HDM2 promoter T/G rs2279744 and T/A rs1196333, XRCC1 G/A rs25487, XRCC5 T/C rs1051677 and TGFB1 C/T rs1800469). In addition, Kaplan-Meier analyses have also highlighted significant association between genotypes and length of patients’ follow-up after radiotherapy. Multivariate logistic regression has further sustained these results suggesting predictive and prognostic roles of SNPs. Univariate and multivariate analysis suggest that radiation toxicity in radiotherapy patients are associated with certain SNPs, in genes including HDM2 promoter studied for the 1st time. These results support the use of SNPs as genetic predictive markers for clinical radiosensitivity and evoke a prognostic role for length of patients’ follow-up after radiotherapy

Towards a gestural 3D interaction for tangible and three-dimensional GIS visualizations

Science.gov (United States)

Partsinevelos, Panagiotis; Agadakos, Ioannis; Pattakos, Nikolas; Maragakis, Michail

2014-05-01

The last decade has been characterized by a significant increase of spatially dependent applications that require storage, visualization, analysis and exploration of geographic information. GIS analysis of spatiotemporal geographic data is operated by highly trained personnel under an abundance of software and tools, lacking interoperability and friendly user interaction. Towards this end, new forms of querying and interaction are emerging, including gestural interfaces. Three-dimensional GIS representations refer to either tangible surfaces or projected representations. Making a 3D tangible geographic representation touch-sensitive may be a convenient solution, but such an approach raises the cost significantly and complicates the hardware and processing required to combine touch-sensitive material (for pinpointing points) with deformable material (for displaying elevations). In this study, a novel interaction scheme upon a three dimensional visualization of GIS data is proposed. While gesture user interfaces are not yet fully acceptable due to inconsistencies and complexity, a non-tangible GIS system where 3D visualizations are projected, calls for interactions that are based on three-dimensional, non-contact and gestural procedures. Towards these objectives, we use the Microsoft Kinect II system which includes a time of flight camera, allowing for a robust and real time depth map generation, along with the capturing and translation of a variety of predefined gestures from different simultaneous users. By incorporating these features into our system architecture, we attempt to create a natural way for users to operate on GIS data. Apart from the conventional pan and zoom features, the key functions addressed for the 3-D user interface is the ability to pinpoint particular points, lines and areas of interest, such as destinations, waypoints, landmarks, closed areas, etc. The first results shown, concern a projected GIS representation where the user selects points

Interactive Correlation Analysis and Visualization of Climate Data

Energy Technology Data Exchange (ETDEWEB)

Ma, Kwan-Liu [Univ. of California, Davis, CA (United States)

2016-09-21

The relationship between our ability to analyze and extract insights from visualization of climate model output and the capability of the available resources to make those visualizations has reached a crisis point. The large volume of data currently produced by climate models is overwhelming the current, decades-old visualization workflow. The traditional methods for visualizing climate output also have not kept pace with changes in the types of grids used, the number of variables involved, and the number of different simulations performed with a climate model or the feature-richness of high-resolution simulations. This project has developed new and faster methods for visualization in order to get the most knowledge out of the new generation of high-resolution climate models. While traditional climate images will continue to be useful, there is need for new approaches to visualization and analysis of climate data if we are to gain all the insights available in ultra-large data sets produced by high-resolution model output and ensemble integrations of climate models such as those produced for the Coupled Model Intercomparison Project. Towards that end, we have developed new visualization techniques for performing correlation analysis. We have also introduced highly scalable, parallel rendering methods for visualizing large-scale 3D data. This project was done jointly with climate scientists and visualization researchers at Argonne National Laboratory and NCAR.

Using a Three-Dimensional Interactive Model To Teach Environmental Concepts to Visually Impaired Children.

Science.gov (United States)

Budd, Julia M.; LaGrow, Steven J.

2000-01-01

A study investigated the efficacy of using the Buddy Road Kit, an interactive, wooden model, to teach environmental concepts to 4 children with visual impairments ages 7 to 11 years old. Results indicate the model was effective in teaching environmental concepts and traffic safety to the children involved. (Contains references.) (CR)

VCS: Tool for Visualizing Copy Number Variation and Single Nucleotide Polymorphism

Directory of Open Access Journals (Sweden)

HyoYoung Kim

2014-12-01

Full Text Available Copy number variation (CNV or single nucleotide phlyorphism (SNP is useful genetic resource to aid in understanding complex phenotypes or deseases susceptibility. Although thousands of CNVs and SNPs are currently avaliable in the public databases, they are somewhat difficult to use for analyses without visualization tools. We developed a web-based tool called the VCS (visualization of CNV or SNP to visualize the CNV or SNP detected. The VCS tool can assist to easily interpret a biological meaning from the numerical value of CNV and SNP. The VCS provides six visualization tools: i the enrichment of genome contents in CNV; ii the physical distribution of CNV or SNP on chromosomes; iii the distribution of log2 ratio of CNVs with criteria of interested; iv the number of CNV or SNP per binning unit; v the distribution of homozygosity of SNP genotype; and vi cytomap of genes within CNV or SNP region.

Developing an Interactive Data Visualization Tool to Assess the Impact of Decision Support on Clinical Operations.

Science.gov (United States)

Huber, Timothy C; Krishnaraj, Arun; Monaghan, Dayna; Gaskin, Cree M

2018-05-18

Due to mandates from recent legislation, clinical decision support (CDS) software is being adopted by radiology practices across the country. This software provides imaging study decision support for referring providers at the point of order entry. CDS systems produce a large volume of data, providing opportunities for research and quality improvement. In order to better visualize and analyze trends in this data, an interactive data visualization dashboard was created using a commercially available data visualization platform. Following the integration of a commercially available clinical decision support product into the electronic health record, a dashboard was created using a commercially available data visualization platform (Tableau, Seattle, WA). Data generated by the CDS were exported from the data warehouse, where they were stored, into the platform. This allowed for real-time visualization of the data generated by the decision support software. The creation of the dashboard allowed the output from the CDS platform to be more easily analyzed and facilitated hypothesis generation. Integrating data visualization tools into clinical decision support tools allows for easier data analysis and can streamline research and quality improvement efforts.

CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity

Science.gov (United States)

Blaisdell, Carol J; Howard, Timothy D; Stern, Augustus; Bamford, Penelope; Bleecker, Eugene R; Stine, O Colin

2004-01-01

Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity. PMID:15507145

CLC-2 single nucleotide polymorphisms (SNPs as potential modifiers of cystic fibrosis disease severity

Directory of Open Access Journals (Sweden)

Bleecker Eugene R

2004-10-01

Full Text Available Abstract Background Cystic fibrosis (CF lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1 > 70% and Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity.

Map Learning with a 3D Printed Interactive Small-Scale Model: Improvement of Space and Text Memorization in Visually Impaired Students

Directory of Open Access Journals (Sweden)

Stéphanie Giraud

2017-06-01

Full Text Available Special education teachers for visually impaired students rely on tools such as raised-line maps (RLMs to teach spatial knowledge. These tools do not fully and adequately meet the needs of the teachers because they are long to produce, expensive, and not versatile enough to provide rapid updating of the content. For instance, the same RLM can barely be used during different lessons. In addition, those maps do not provide any interactivity, which reduces students’ autonomy. With the emergence of 3D printing and low-cost microcontrollers, it is now easy to design affordable interactive small-scale models (SSMs which are adapted to the needs of special education teachers. However, no study has previously been conducted to evaluate non-visual learning using interactive SSMs. In collaboration with a specialized teacher, we designed a SSM and a RLM representing the evolution of the geography and history of a fictitious kingdom. The two conditions were compared in a study with 24 visually impaired students regarding the memorization of the spatial layout and historical contents. The study showed that the interactive SSM improved both space and text memorization as compared to the RLM with braille legend. In conclusion, we argue that affordable home-made interactive small scale models can improve learning for visually impaired students. Interestingly, they are adaptable to any teaching situation including students with specific needs.

Map Learning with a 3D Printed Interactive Small-Scale Model: Improvement of Space and Text Memorization in Visually Impaired Students.

Science.gov (United States)

Giraud, Stéphanie; Brock, Anke M; Macé, Marc J-M; Jouffrais, Christophe

2017-01-01

Special education teachers for visually impaired students rely on tools such as raised-line maps (RLMs) to teach spatial knowledge. These tools do not fully and adequately meet the needs of the teachers because they are long to produce, expensive, and not versatile enough to provide rapid updating of the content. For instance, the same RLM can barely be used during different lessons. In addition, those maps do not provide any interactivity, which reduces students' autonomy. With the emergence of 3D printing and low-cost microcontrollers, it is now easy to design affordable interactive small-scale models (SSMs) which are adapted to the needs of special education teachers. However, no study has previously been conducted to evaluate non-visual learning using interactive SSMs. In collaboration with a specialized teacher, we designed a SSM and a RLM representing the evolution of the geography and history of a fictitious kingdom. The two conditions were compared in a study with 24 visually impaired students regarding the memorization of the spatial layout and historical contents. The study showed that the interactive SSM improved both space and text memorization as compared to the RLM with braille legend. In conclusion, we argue that affordable home-made interactive small scale models can improve learning for visually impaired students. Interestingly, they are adaptable to any teaching situation including students with specific needs.

Multiplex pyrosequencing assay using AdvISER-MH-PYRO algorithm: a case for rapid and cost-effective genotyping analysis of prostate cancer risk-associated SNPs.

Science.gov (United States)

Ambroise, Jérôme; Butoescu, Valentina; Robert, Annie; Tombal, Bertrand; Gala, Jean-Luc

2015-06-25

Single Nucleotide Polymorphisms (SNPs) identified in Genome Wide Association Studies (GWAS) have generally moderate association with related complex diseases. Accordingly, Multilocus Genetic Risk Scores (MGRSs) have been computed in previous studies in order to assess the cumulative association of multiple SNPs. When several SNPs have to be genotyped for each patient, using successive uniplex pyrosequencing reactions increases analytical reagent expenses and Turnaround Time (TAT). While a set of several pyrosequencing primers could theoretically be used to analyze multiplex amplicons, this would generate overlapping primer-specific pyro-signals that are visually uninterpretable. In the current study, two multiplex assays were developed consisting of a quadruplex (n=4) and a quintuplex (n=5) polymerase chain reaction (PCR) each followed by multiplex pyrosequencing analysis. The aim was to reliably but rapidly genotype a set of prostate cancer-related SNPs (n=9). The nucleotide dispensation order was selected using SENATOR software. Multiplex pyro-signals were analyzed using the new AdvISER-MH-PYRO software based on a sparse representation of the signal. Using uniplex assays as gold standard, the concordance between multiplex and uniplex assays was assessed on DNA extracted from patient blood samples (n = 10). All genotypes (n=90) generated with the quadruplex and the quintuplex pyroquencing assays were perfectly (100 %) concordant with uniplex pyrosequencing. Using multiplex genotyping approach for analyzing a set of 90 patients allowed reducing TAT by approximately 75 % (i.e., from 2025 to 470 min) while reducing reagent consumption and cost by approximately 70 % (i.e., from ~229 US$ /patient to ~64 US$ /patient). This combination of quadruplex and quintuplex pyrosequencing and PCR assays enabled to reduce the amount of DNA required for multi-SNP analysis, and to lower the global TAT and costs of SNP genotyping while providing results as reliable as uniplex

Interactive Visualization of Large-Scale Hydrological Data using Emerging Technologies in Web Systems and Parallel Programming

Science.gov (United States)

Demir, I.; Krajewski, W. F.

2013-12-01

As geoscientists are confronted with increasingly massive datasets from environmental observations to simulations, one of the biggest challenges is having the right tools to gain scientific insight from the data and communicate the understanding to stakeholders. Recent developments in web technologies make it easy to manage, visualize and share large data sets with general public. Novel visualization techniques and dynamic user interfaces allow users to interact with data, and modify the parameters to create custom views of the data to gain insight from simulations and environmental observations. This requires developing new data models and intelligent knowledge discovery techniques to explore and extract information from complex computational simulations or large data repositories. Scientific visualization will be an increasingly important component to build comprehensive environmental information platforms. This presentation provides an overview of the trends and challenges in the field of scientific visualization, and demonstrates information visualization and communication tools developed within the light of these challenges.

Celeris: A GPU-accelerated open source software with a Boussinesq-type wave solver for real-time interactive simulation and visualization

Science.gov (United States)

Tavakkol, Sasan; Lynett, Patrick

2017-08-01

In this paper, we introduce an interactive coastal wave simulation and visualization software, called Celeris. Celeris is an open source software which needs minimum preparation to run on a Windows machine. The software solves the extended Boussinesq equations using a hybrid finite volume-finite difference method and supports moving shoreline boundaries. The simulation and visualization are performed on the GPU using Direct3D libraries, which enables the software to run faster than real-time. Celeris provides a first-of-its-kind interactive modeling platform for coastal wave applications and it supports simultaneous visualization with both photorealistic and colormapped rendering capabilities. We validate our software through comparison with three standard benchmarks for non-breaking and breaking waves.

MSAViewer: interactive JavaScript visualization of multiple sequence alignments.

Science.gov (United States)

Yachdav, Guy; Wilzbach, Sebastian; Rauscher, Benedikt; Sheridan, Robert; Sillitoe, Ian; Procter, James; Lewis, Suzanna E; Rost, Burkhard; Goldberg, Tatyana

2016-11-15

The MSAViewer is a quick and easy visualization and analysis JavaScript component for Multiple Sequence Alignment data of any size. Core features include interactive navigation through the alignment, application of popular color schemes, sorting, selecting and filtering. The MSAViewer is 'web ready': written entirely in JavaScript, compatible with modern web browsers and does not require any specialized software. The MSAViewer is part of the BioJS collection of components. The MSAViewer is released as open source software under the Boost Software License 1.0. Documentation, source code and the viewer are available at http://msa.biojs.net/Supplementary information: Supplementary data are available at Bioinformatics online. msa@bio.sh. © The Author 2016. Published by Oxford University Press.

Analysis of 49 autosomal SNPs in three ethnic groups from Iran

DEFF Research Database (Denmark)

Sharafi Farzad, M; Tomas Mas, Carmen; Børsting, C

2013-01-01

Asian populations in the MDS plot drawn from the FST values. Statistical parameters of forensic interest calculated for the Iranian ethnic groups showed values of the same order of magnitudes as those obtained for Asians. The mean match probability calculated for the 49 SNPs ranged from 1.7x10...

Physical activity modifies the effect of SNPs in the SLC2A2 (GLUT2) and ABCC8 (SUR1) genes on the risk of developing type 2 diabetes

DEFF Research Database (Denmark)

Oskari Kilpeläinen, Tuomas; Lakka, T A; Laaksonen, D E

2007-01-01

. The interaction of the SNPs with the change in PA on the conversion to T2D was assessed using Cox regression with adjustments for the other components of the intervention (dietary changes, weight reduction). The carriers of the common homozygous genotype of rs5393, rs5394, or rs5404 of SLC2A2 and rs3758947...

No prognostic value added by vitamin D pathway SNPs to current prognostic system for melanoma survival.

Directory of Open Access Journals (Sweden)

Li Luo

Full Text Available The prognostic improvement attributed to genetic markers over current prognostic system has not been well studied for melanoma. The goal of this study is to evaluate the added prognostic value of Vitamin D Pathway (VitD SNPs to currently known clinical and demographic factors such as age, sex, Breslow thickness, mitosis and ulceration (CDF. We utilized two large independent well-characterized melanoma studies: the Genes, Environment, and Melanoma (GEM and MD Anderson studies, and performed variable selection of VitD pathway SNPs and CDF using Random Survival Forest (RSF method in addition to Cox proportional hazards models. The Harrell's C-index was used to compare the performance of model predictability. The population-based GEM study enrolled 3,578 incident cases of cutaneous melanoma (CM, and the hospital-based MD Anderson study consisted of 1,804 CM patients. Including both VitD SNPs and CDF yielded C-index of 0.85, which provided slight but not significant improvement by CDF alone (C-index = 0.83 in the GEM study. Similar results were observed in the independent MD Anderson study (C-index = 0.84 and 0.83, respectively. The Cox model identified no significant associations after adjusting for multiplicity. Our results do not support clinically significant prognostic improvements attributable to VitD pathway SNPs over current prognostic system for melanoma survival.

Linkage disequilibrium between STRPs and SNPs across the human genome.

Science.gov (United States)

Payseur, Bret A; Place, Michael; Weber, James L

2008-05-01

Patterns of linkage disequilibrium (LD) reveal the action of evolutionary processes and provide crucial information for association mapping of disease genes. Although recent studies have described the landscape of LD among single nucleotide polymorphisms (SNPs) from across the human genome, associations involving other classes of molecular variation remain poorly understood. In addition to recombination and population history, mutation rate and process are expected to shape LD. To test this idea, we measured associations between short-tandem-repeat polymorphisms (STRPs), which can mutate rapidly and recurrently, and SNPs in 721 regions across the human genome. We directly compared STRP-SNP LD with SNP-SNP LD from the same genomic regions in the human HapMap populations. The intensity of STRP-SNP LD, measured by the average of D', was reduced, consistent with the action of recurrent mutation. Nevertheless, a higher fraction of STRP-SNP pairs than SNP-SNP pairs showed significant LD, on both short (up to 50 kb) and long (cM) scales. These results reveal the substantial effects of mutational processes on LD at STRPs and provide important measures of the potential of STRPs for association mapping of disease genes.

An Interactive Visualization of the Past using a Situated Simulation Approach

DEFF Research Database (Denmark)

Madsen, Jacob Boesen; Madsen, Claus B.

2013-01-01

This paper describes aspects of the development of an interactive installation for visualizing a 3D reconstruction of a historical church chapel in Kolding, Denmark. We focus on three aspects inherent to a mobile Augmented Reality development con- text; 1) A procedure for combating gyroscope drift...... on handheld devices, 2) achieving realistic lighting computation on a mobile platform at interactive frame-rates and 3) an approach to re- location within this applications situated location without position tracking. We present a solution to each of these three aspects. The development is targeted a specific...... application, but the presented solutions should be relevant to researchers and developers facing similar issues in other contexts. We furthermore present initial findings from everyday usage by visitors at the museum, and explore how these findings can be useful in connection with novel technology...

QuickRNASeq lifts large-scale RNA-seq data analyses to the next level of automation and interactive visualization.

Science.gov (United States)

Zhao, Shanrong; Xi, Li; Quan, Jie; Xi, Hualin; Zhang, Ying; von Schack, David; Vincent, Michael; Zhang, Baohong

2016-01-08

RNA sequencing (RNA-seq), a next-generation sequencing technique for transcriptome profiling, is being increasingly used, in part driven by the decreasing cost of sequencing. Nevertheless, the analysis of the massive amounts of data generated by large-scale RNA-seq remains a challenge. Multiple algorithms pertinent to basic analyses have been developed, and there is an increasing need to automate the use of these tools so as to obtain results in an efficient and user friendly manner. Increased automation and improved visualization of the results will help make the results and findings of the analyses readily available to experimental scientists. By combing the best open source tools developed for RNA-seq data analyses and the most advanced web 2.0 technologies, we have implemented QuickRNASeq, a pipeline for large-scale RNA-seq data analyses and visualization. The QuickRNASeq workflow consists of three main steps. In Step #1, each individual sample is processed, including mapping RNA-seq reads to a reference genome, counting the numbers of mapped reads, quality control of the aligned reads, and SNP (single nucleotide polymorphism) calling. Step #1 is computationally intensive, and can be processed in parallel. In Step #2, the results from individual samples are merged, and an integrated and interactive project report is generated. All analyses results in the report are accessible via a single HTML entry webpage. Step #3 is the data interpretation and presentation step. The rich visualization features implemented here allow end users to interactively explore the results of RNA-seq data analyses, and to gain more insights into RNA-seq datasets. In addition, we used a real world dataset to demonstrate the simplicity and efficiency of QuickRNASeq in RNA-seq data analyses and interactive visualizations. The seamless integration of automated capabilites with interactive visualizations in QuickRNASeq is not available in other published RNA-seq pipelines. The high degree

Visualizing fungal metabolites during mycoparasitic interaction by MALDI mass spectrometry imaging

Science.gov (United States)

Holzlechner, Matthias; Reitschmidt, Sonja; Gruber, Sabine; Zeilinger, Susanne

2016-01-01

Studying microbial interactions by MALDI mass spectrometry imaging (MSI) directly from growing media is a difficult task if high sensitivity is demanded. We present a quick and robust sample preparation strategy for growing fungi (Trichoderma atroviride, Rhizoctonia solani) on glass slides to establish a miniaturized confrontation assay. By this we were able to visualize metabolite distributions by MALDI MSI after matrix deposition with a home‐built sublimation device and thorough recrystallization. We present for the first time MALDI MSI data for secondary metabolite release during active mycoparasitism. PMID:26959280

Genetic association of SNPs in the FTO gene and predisposition to obesity in Malaysian Malays

International Nuclear Information System (INIS)

Apalasamy, Y.D.; Ming, M.F.; Rampal, S.; Bulgiba, A.; Mohamed, Z.

2012-01-01

The common variants in the fat mass- and obesity-associated (FTO) gene have been previously found to be associated with obesity in various adult populations. The objective of the present study was to investigate whether the single nucleotide polymorphisms (SNPs) and linkage disequilibrium (LD) blocks in various regions of the FTO gene are associated with predisposition to obesity in Malaysian Malays. Thirty-one FTO SNPs were genotyped in 587 (158 obese and 429 non-obese) Malaysian Malay subjects. Obesity traits and lipid profiles were measured and single-marker association testing, LD testing, and haplotype association analysis were performed. LD analysis of the FTO SNPs revealed the presence of 57 regions with complete LD (D' = 1.0). In addition, we detected the association of rs17817288 with low-density lipoprotein cholesterol. The FTO gene may therefore be involved in lipid metabolism in Malaysian Malays. Two haplotype blocks were present in this region of the FTO gene, but no particular haplotype was found to be significantly associated with an increased risk of obesity in Malaysian Malays

Enrichment of risk SNPs in regulatory regions implicate diverse tissues in Parkinson’s disease etiology

Science.gov (United States)

Coetzee, Simon G.; Pierce, Steven; Brundin, Patrik; Brundin, Lena; Hazelett, Dennis J.; Coetzee, Gerhard A.

2016-01-01

Recent genome-wide association studies (GWAS) of Parkinson’s disease (PD) revealed at least 26 risk loci, with associated single nucleotide polymorphisms (SNPs) located in non-coding DNA having unknown functions in risk. In order to explore in which cell types these SNPs (and their correlated surrogates at r2 ≥ 0.8) could alter cellular function, we assessed their location overlap with histone modification regions that indicate transcription regulation in 77 diverse cell types. We found statistically significant enrichment of risk SNPs at 12 loci in active enhancers or promoters. We investigated 4 risk loci in depth that were most significantly enriched (−logeP > 14) and contained 8 putative enhancers in the different cell types. These enriched loci, along with eQTL associations, were unexpectedly present in non-neuronal cell types. These included lymphocytes, mesendoderm, liver- and fat-cells, indicating that cell types outside the brain are involved in the genetic predisposition to PD. Annotating regulatory risk regions within specific cell types may unravel new putative risk mechanisms and molecular pathways that contribute to PD development. PMID:27461410

Genetic association of SNPs in the FTO gene and predisposition to obesity in Malaysian Malays

Energy Technology Data Exchange (ETDEWEB)

Apalasamy, Y.D. [Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Kuala Lumpur (Malaysia); Ming, M.F.; Rampal, S.; Bulgiba, A. [Julius Centre University of Malaya, Department of Social and Preventive Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur (Malaysia); Mohamed, Z. [Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Kuala Lumpur (Malaysia)

2012-08-24

The common variants in the fat mass- and obesity-associated (FTO) gene have been previously found to be associated with obesity in various adult populations. The objective of the present study was to investigate whether the single nucleotide polymorphisms (SNPs) and linkage disequilibrium (LD) blocks in various regions of the FTO gene are associated with predisposition to obesity in Malaysian Malays. Thirty-one FTO SNPs were genotyped in 587 (158 obese and 429 non-obese) Malaysian Malay subjects. Obesity traits and lipid profiles were measured and single-marker association testing, LD testing, and haplotype association analysis were performed. LD analysis of the FTO SNPs revealed the presence of 57 regions with complete LD (D' = 1.0). In addition, we detected the association of rs17817288 with low-density lipoprotein cholesterol. The FTO gene may therefore be involved in lipid metabolism in Malaysian Malays. Two haplotype blocks were present in this region of the FTO gene, but no particular haplotype was found to be significantly associated with an increased risk of obesity in Malaysian Malays.

Genetic association of SNPs in the FTO gene and predisposition to obesity in Malaysian Malays

Directory of Open Access Journals (Sweden)

Y.D. Apalasamy

2012-12-01

Full Text Available The common variants in the fat mass- and obesity-associated (FTO gene have been previously found to be associated with obesity in various adult populations. The objective of the present study was to investigate whether the single nucleotide polymorphisms (SNPs and linkage disequilibrium (LD blocks in various regions of the FTO gene are associated with predisposition to obesity in Malaysian Malays. Thirty-one FTO SNPs were genotyped in 587 (158 obese and 429 non-obese Malaysian Malay subjects. Obesity traits and lipid profiles were measured and single-marker association testing, LD testing, and haplotype association analysis were performed. LD analysis of the FTO SNPs revealed the presence of 57 regions with complete LD (D’ = 1.0. In addition, we detected the association of rs17817288 with low-density lipoprotein cholesterol. The FTO gene may therefore be involved in lipid metabolism in Malaysian Malays. Two haplotype blocks were present in this region of the FTO gene, but no particular haplotype was found to be significantly associated with an increased risk of obesity in Malaysian Malays.

GeneWiz browser: An Interactive Tool for Visualizing Sequenced Chromosomes

DEFF Research Database (Denmark)

Hallin, Peter Fischer; Stærfeldt, Hans Henrik; Rotenberg, Eva

2009-01-01

, standard atlases are pre-generated for all prokaryotic genomes available in GenBank, providing a fast overview of all available genomes, including recently deposited genome sequences. The tool is available online from http://www.cbs.dtu.dk/services/gwBrowser. [Supplemental material including interactive...... atlases is available online at http://www.cbs.dtu.dk/services/gwBrowser/suppl/]....... readability and increased functionality compared to other browsers. The tool allows the user to select the display of various genomic features, color setting and data ranges. Custom numerical data can be added to the plot, allowing for example visualization of gene expression and regulation data. Further...

Visual interaction: models, systems, prototypes. The Pictorial Computing Laboratory at the University of Rome La Sapienza.

Science.gov (United States)

Bottoni, Paolo; Cinque, Luigi; De Marsico, Maria; Levialdi, Stefano; Panizzi, Emanuele

2006-06-01

This paper reports on the research activities performed by the Pictorial Computing Laboratory at the University of Rome, La Sapienza, during the last 5 years. Such work, essentially is based on the study of humancomputer interaction, spans from metamodels of interaction down to prototypes of interactive systems for both synchronous multimedia communication and groupwork, annotation systems for web pages, also encompassing theoretical and practical issues of visual languages and environments also including pattern recognition algorithms. Some applications are also considered like e-learning and collaborative work.

Data visualization, bar naked: A free tool for creating interactive graphics.

Science.gov (United States)

Weissgerber, Tracey L; Savic, Marko; Winham, Stacey J; Stanisavljevic, Dejana; Garovic, Vesna D; Milic, Natasa M

2017-12-15

Although bar graphs are designed for categorical data, they are routinely used to present continuous data in studies that have small sample sizes. This presentation is problematic, as many data distributions can lead to the same bar graph, and the actual data may suggest different conclusions from the summary statistics. To address this problem, many journals have implemented new policies that require authors to show the data distribution. This paper introduces a free, web-based tool for creating an interactive alternative to the bar graph (http://statistika.mfub.bg.ac.rs/interactive-dotplot/). This tool allows authors with no programming expertise to create customized interactive graphics, including univariate scatterplots, box plots, and violin plots, for comparing values of a continuous variable across different study groups. Individual data points may be overlaid on the graphs. Additional features facilitate visualization of subgroups or clusters of non-independent data. A second tool enables authors to create interactive graphics from data obtained with repeated independent experiments (http://statistika.mfub.bg.ac.rs/interactive-repeated-experiments-dotplot/). These tools are designed to encourage exploration and critical evaluation of the data behind the summary statistics and may be valuable for promoting transparency, reproducibility, and open science in basic biomedical research. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.

MSDD: a manually curated database of experimentally supported associations among miRNAs, SNPs and human diseases

OpenAIRE

Yue, Ming; Zhou, Dianshuang; Zhi, Hui; Wang, Peng; Zhang, Yan; Gao, Yue; Guo, Maoni; Li, Xin; Wang, Yanxia; Zhang, Yunpeng; Ning, Shangwei; Li, Xia

2017-01-01

Abstract The MiRNA SNP Disease Database (MSDD, http://www.bio-bigdata.com/msdd/) is a manually curated database that provides comprehensive experimentally supported associations among microRNAs (miRNAs), single nucleotide polymorphisms (SNPs) and human diseases. SNPs in miRNA-related functional regions such as mature miRNAs, promoter regions, pri-miRNAs, pre-miRNAs and target gene 3′-UTRs, collectively called ‘miRSNPs’, represent a novel category of functional molecules. miRSNPs can lead to m...

Volume Visualization and Compositing on Large-Scale Displays Using Handheld Touchscreen Interaction

KAUST Repository

Gastelum, Cristhopper Jacobo Armenta

2011-07-27

Advances in the physical sciences have progressively delivered ever increasing, already extremely large data sets to be analyzed. High performance volume rendering has become critical to the scientists for a better understanding of the massive amounts of data to be visualized. Cluster based rendering systems have become the base line to achieve the power and flexibility required to perform such task. Furthermore, display arrays have become the most suitable solution to display these data sets at their natural size and resolution which can be critical for human perception and evaluation. The work in this thesis aims at improving the scalability and usability of volume rendering systems that target visualization on display arrays. The first part deals with improving the performance by introducing the implementations of two parallel compositing algorithms for volume rendering: direct send and binary swap. The High quality Volume Rendering (HVR) framework has been extended to accommodate parallel compositing where previously only serial compositing was possible. The preliminary results show improvements in the compositing times for direct send even for a small number of processors. Unfortunately, the results of binary swap exhibit a negative behavior. This is due to the naive use of the graphics hardware blending mechanism. The expensive transfers account for the lengthy compositing times. The second part targets the development of scalable and intuitive interaction mechanisms. It introduces the development of a new client application for multitouch tablet devices, like the Apple iPad. The main goal is to provide the HVR framework, that has been extended to use tiled displays, a more intuitive and portable interaction mechanism that can get advantage of the new environment. The previous client is a PC application for the typical desktop settings that use a mouse and keyboard as sources of interaction. The current implementation of the client lets the user steer and

The Visual Geophysical Exploration Environment: A Multi-dimensional Scientific Visualization

Science.gov (United States)

Pandya, R. E.; Domenico, B.; Murray, D.; Marlino, M. R.

2003-12-01

The Visual Geophysical Exploration Environment (VGEE) is an online learning environment designed to help undergraduate students understand fundamental Earth system science concepts. The guiding principle of the VGEE is the importance of hands-on interaction with scientific visualization and data. The VGEE consists of four elements: 1) an online, inquiry-based curriculum for guiding student exploration; 2) a suite of El Nino-related data sets adapted for student use; 3) a learner-centered interface to a scientific visualization tool; and 4) a set of concept models (interactive tools that help students understand fundamental scientific concepts). There are two key innovations featured in this interactive poster session. One is the integration of concept models and the visualization tool. Concept models are simple, interactive, Java-based illustrations of fundamental physical principles. We developed eight concept models and integrated them into the visualization tool to enable students to probe data. The ability to probe data using a concept model addresses the common problem of transfer: the difficulty students have in applying theoretical knowledge to everyday phenomenon. The other innovation is a visualization environment and data that are discoverable in digital libraries, and installed, configured, and used for investigations over the web. By collaborating with the Integrated Data Viewer developers, we were able to embed a web-launchable visualization tool and access to distributed data sets into the online curricula. The Thematic Real-time Environmental Data Distributed Services (THREDDS) project is working to provide catalogs of datasets that can be used in new VGEE curricula under development. By cataloging this curricula in the Digital Library for Earth System Education (DLESE), learners and educators can discover the data and visualization tool within a framework that guides their use.

Audio-Visual Tibetan Speech Recognition Based on a Deep Dynamic Bayesian Network for Natural Human Robot Interaction

Directory of Open Access Journals (Sweden)

Yue Zhao

2012-12-01

Full Text Available Audio-visual speech recognition is a natural and robust approach to improving human-robot interaction in noisy environments. Although multi-stream Dynamic Bayesian Network and coupled HMM are widely used for audio-visual speech recognition, they fail to learn the shared features between modalities and ignore the dependency of features among the frames within each discrete state. In this paper, we propose a Deep Dynamic Bayesian Network (DDBN to perform unsupervised extraction of spatial-temporal multimodal features from Tibetan audio-visual speech data and build an accurate audio-visual speech recognition model under a no frame-independency assumption. The experiment results on Tibetan speech data from some real-world environments showed the proposed DDBN outperforms the state-of-art methods in word recognition accuracy.

A Web-based Multi-user Interactive Visualization System For Large-Scale Computing Using Google Web Toolkit Technology

Science.gov (United States)

Weiss, R. M.; McLane, J. C.; Yuen, D. A.; Wang, S.

2009-12-01

We have created a web-based, interactive system for multi-user collaborative visualization of large data sets (on the order of terabytes) that allows users in geographically disparate locations to simultaneous and collectively visualize large data sets over the Internet. By leveraging asynchronous java and XML (AJAX) web development paradigms via the Google Web Toolkit (http://code.google.com/webtoolkit/), we are able to provide remote, web-based users a web portal to LCSE's (http://www.lcse.umn.edu) large-scale interactive visualization system already in place at the University of Minnesota that provides high resolution visualizations to the order of 15 million pixels by Megan Damon. In the current version of our software, we have implemented a new, highly extensible back-end framework built around HTTP "server push" technology to provide a rich collaborative environment and a smooth end-user experience. Furthermore, the web application is accessible via a variety of devices including netbooks, iPhones, and other web- and javascript-enabled cell phones. New features in the current version include: the ability for (1) users to launch multiple visualizations, (2) a user to invite one or more other users to view their visualization in real-time (multiple observers), (3) users to delegate control aspects of the visualization to others (multiple controllers) , and (4) engage in collaborative chat and instant messaging with other users within the user interface of the web application. We will explain choices made regarding implementation, overall system architecture and method of operation, and the benefits of an extensible, modular design. We will also discuss future goals, features, and our plans for increasing scalability of the system which includes a discussion of the benefits potentially afforded us by a migration of server-side components to the Google Application Engine (http://code.google.com/appengine/).

Visualizing Biological Data in Museums: Visitor Learning with an Interactive Tree of Life Exhibit

Science.gov (United States)

Horn, Michael S.; Phillips, Brenda C.; Evans, Evelyn Margaret; Block, Florian; Diamond, Judy; Shen, Chia

2016-01-01

In this study, we investigate museum visitor learning and engagement at an interactive visualization of an evolutionary tree of life consisting of over 70,000 species. The study was conducted at two natural history museums where visitors collaboratively explored the tree of life using direct touch gestures on a multi-touch tabletop display. In the…

A genome-wide investigation of SNPs and CNVs in schizophrenia.

Directory of Open Access Journals (Sweden)

Anna C Need

2009-02-01

Full Text Available We report a genome-wide assessment of single nucleotide polymorphisms (SNPs and copy number variants (CNVs in schizophrenia. We investigated SNPs using 871 patients and 863 controls, following up the top hits in four independent cohorts comprising 1,460 patients and 12,995 controls, all of European origin. We found no genome-wide significant associations, nor could we provide support for any previously reported candidate gene or genome-wide associations. We went on to examine CNVs using a subset of 1,013 cases and 1,084 controls of European ancestry, and a further set of 60 cases and 64 controls of African ancestry. We found that eight cases and zero controls carried deletions greater than 2 Mb, of which two, at 8p22 and 16p13.11-p12.4, are newly reported here. A further evaluation of 1,378 controls identified no deletions greater than 2 Mb, suggesting a high prior probability of disease involvement when such deletions are observed in cases. We also provide further evidence for some smaller, previously reported, schizophrenia-associated CNVs, such as those in NRXN1 and APBA2. We could not provide strong support for the hypothesis that schizophrenia patients have a significantly greater "load" of large (>100 kb, rare CNVs, nor could we find common CNVs that associate with schizophrenia. Finally, we did not provide support for the suggestion that schizophrenia-associated CNVs may preferentially disrupt genes in neurodevelopmental pathways. Collectively, these analyses provide the first integrated study of SNPs and CNVs in schizophrenia and support the emerging view that rare deleterious variants may be more important in schizophrenia predisposition than common polymorphisms. While our analyses do not suggest that implicated CNVs impinge on particular key pathways, we do support the contribution of specific genomic regions in schizophrenia, presumably due to recurrent mutation. On balance, these data suggest that very few schizophrenia patients

Learning Visualizations by Analogy: Promoting Visual Literacy through Visualization Morphing.

Science.gov (United States)

Ruchikachorn, Puripant; Mueller, Klaus

2015-09-01

We propose the concept of teaching (and learning) unfamiliar visualizations by analogy, that is, demonstrating an unfamiliar visualization method by linking it to another more familiar one, where the in-betweens are designed to bridge the gap of these two visualizations and explain the difference in a gradual manner. As opposed to a textual description, our morphing explains an unfamiliar visualization through purely visual means. We demonstrate our idea by ways of four visualization pair examples: data table and parallel coordinates, scatterplot matrix and hyperbox, linear chart and spiral chart, and hierarchical pie chart and treemap. The analogy is commutative i.e. any member of the pair can be the unfamiliar visualization. A series of studies showed that this new paradigm can be an effective teaching tool. The participants could understand the unfamiliar visualization methods in all of the four pairs either fully or at least significantly better after they observed or interacted with the transitions from the familiar counterpart. The four examples suggest how helpful visualization pairings be identified and they will hopefully inspire other visualization morphings and associated transition strategies to be identified.

Prediction of disease causing non-synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP.

Directory of Open Access Journals (Sweden)

Morten Bo Johansen

Full Text Available We have developed a sequence conservation-based artificial neural network predictor called NetDiseaseSNP which classifies nsSNPs as disease-causing or neutral. Our method uses the excellent alignment generation algorithm of SIFT to identify related sequences and a combination of 31 features assessing sequence conservation and the predicted surface accessibility to produce a single score which can be used to rank nsSNPs based on their potential to cause disease. NetDiseaseSNP classifies successfully disease-causing and neutral mutations. In addition, we show that NetDiseaseSNP discriminates cancer driver and passenger mutations satisfactorily. Our method outperforms other state-of-the-art methods on several disease/neutral datasets as well as on cancer driver/passenger mutation datasets and can thus be used to pinpoint and prioritize plausible disease candidates among nsSNPs for further investigation. NetDiseaseSNP is publicly available as an online tool as well as a web service: http://www.cbs.dtu.dk/services/NetDiseaseSNP.

RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs

DEFF Research Database (Denmark)

Radhakrishnan, Sabarinathan; Tafer, Hakim; Seemann, Ernst Stefan

2013-01-01

into structural effects of SNPs. The global measures employed so far suffer from limited accuracy of folding programs on large RNAs and are computationally too demanding for genome-wide applications. Here, we present a strategy that focuses on the local regions of maximal structural change between mutant and wild......-type. These local regions are approximated in a "screening mode" that is intended for genome-wide applications. Furthermore, localized regions are identified as those with maximal discrepancy. The mutation effects are quantified in terms of empirical P values. To this end, the RNAsnp software uses extensive...... precomputed tables of the distribution of SNP effects as function of length and GC content. RNAsnp thus achieves both a noise reduction and speed-up of several orders of magnitude over shuffling-based approaches. On a data set comprising 501 SNPs associated with human-inherited diseases, we predict 54 to have...

Comparing strategies for selection of low-density SNPs for imputation-mediated genomic prediction in U. S. Holsteins.

Science.gov (United States)

He, Jun; Xu, Jiaqi; Wu, Xiao-Lin; Bauck, Stewart; Lee, Jungjae; Morota, Gota; Kachman, Stephen D; Spangler, Matthew L

2018-04-01

SNP chips are commonly used for genotyping animals in genomic selection but strategies for selecting low-density (LD) SNPs for imputation-mediated genomic selection have not been addressed adequately. The main purpose of the present study was to compare the performance of eight LD (6K) SNP panels, each selected by a different strategy exploiting a combination of three major factors: evenly-spaced SNPs, increased minor allele frequencies, and SNP-trait associations either for single traits independently or for all the three traits jointly. The imputation accuracies from 6K to 80K SNP genotypes were between 96.2 and 98.2%. Genomic prediction accuracies obtained using imputed 80K genotypes were between 0.817 and 0.821 for daughter pregnancy rate, between 0.838 and 0.844 for fat yield, and between 0.850 and 0.863 for milk yield. The two SNP panels optimized on the three major factors had the highest genomic prediction accuracy (0.821-0.863), and these accuracies were very close to those obtained using observed 80K genotypes (0.825-0.868). Further exploration of the underlying relationships showed that genomic prediction accuracies did not respond linearly to imputation accuracies, but were significantly affected by genotype (imputation) errors of SNPs in association with the traits to be predicted. SNPs optimal for map coverage and MAF were favorable for obtaining accurate imputation of genotypes whereas trait-associated SNPs improved genomic prediction accuracies. Thus, optimal LD SNP panels were the ones that combined both strengths. The present results have practical implications on the design of LD SNP chips for imputation-enabled genomic prediction.

Novel 3D/VR interactive environment for MD simulations, visualization and analysis.

Science.gov (United States)

Doblack, Benjamin N; Allis, Tim; Dávila, Lilian P

2014-12-18

The increasing development of computing (hardware and software) in the last decades has impacted scientific research in many fields including materials science, biology, chemistry and physics among many others. A new computational system for the accurate and fast simulation and 3D/VR visualization of nanostructures is presented here, using the open-source molecular dynamics (MD) computer program LAMMPS. This alternative computational method uses modern graphics processors, NVIDIA CUDA technology and specialized scientific codes to overcome processing speed barriers common to traditional computing methods. In conjunction with a virtual reality system used to model materials, this enhancement allows the addition of accelerated MD simulation capability. The motivation is to provide a novel research environment which simultaneously allows visualization, simulation, modeling and analysis. The research goal is to investigate the structure and properties of inorganic nanostructures (e.g., silica glass nanosprings) under different conditions using this innovative computational system. The work presented outlines a description of the 3D/VR Visualization System and basic components, an overview of important considerations such as the physical environment, details on the setup and use of the novel system, a general procedure for the accelerated MD enhancement, technical information, and relevant remarks. The impact of this work is the creation of a unique computational system combining nanoscale materials simulation, visualization and interactivity in a virtual environment, which is both a research and teaching instrument at UC Merced.

Network model of top-down influences on local gain and contextual interactions in visual cortex.

Science.gov (United States)

Piëch, Valentin; Li, Wu; Reeke, George N; Gilbert, Charles D

2013-10-22

The visual system uses continuity as a cue for grouping oriented line segments that define object boundaries in complex visual scenes. Many studies support the idea that long-range intrinsic horizontal connections in early visual cortex contribute to this grouping. Top-down influences in primary visual cortex (V1) play an important role in the processes of contour integration and perceptual saliency, with contour-related responses being task dependent. This suggests an interaction between recurrent inputs to V1 and intrinsic connections within V1 that enables V1 neurons to respond differently under different conditions. We created a network model that simulates parametrically the control of local gain by hypothetical top-down modification of local recurrence. These local gain changes, as a consequence of network dynamics in our model, enable modulation of contextual interactions in a task-dependent manner. Our model displays contour-related facilitation of neuronal responses and differential foreground vs. background responses over the neuronal ensemble, accounting for the perceptual pop-out of salient contours. It quantitatively reproduces the results of single-unit recording experiments in V1, highlighting salient contours and replicating the time course of contextual influences. We show by means of phase-plane analysis that the model operates stably even in the presence of large inputs. Our model shows how a simple form of top-down modulation of the effective connectivity of intrinsic cortical connections among biophysically realistic neurons can account for some of the response changes seen in perceptual learning and task switching.

A method for fast energy estimation and visualization of protein-ligand interaction

Science.gov (United States)

Tomioka, Nobuo; Itai, Akiko; Iitaka, Yoichi

1987-10-01

A new computational and graphical method for facilitating ligand-protein docking studies is developed on a three-dimensional computer graphics display. Various physical and chemical properties inside the ligand binding pocket of a receptor protein, whose structure is elucidated by X-ray crystal analysis, are calculated on three-dimensional grid points and are stored in advance. By utilizing those tabulated data, it is possible to estimate the non-bonded and electrostatic interaction energy and the number of possible hydrogen bonds between protein and ligand molecules in real time during an interactive docking operation. The method also provides a comprehensive visualization of the local environment inside the binding pocket. With this method, it becomes easier to find a roughly stable geometry of ligand molecules, and one can therefore make a rapid survey of the binding capability of many drug candidates. The method will be useful for drug design as well as for the examination of protein-ligand interactions.

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

DEFF Research Database (Denmark)

Milne, Roger L; Herranz, Jesús; Michailidou, Kyriaki

2014-01-01

susceptibility between 70,917 single nucleotide polymorphisms (SNPs) selected primarily based on prior evidence of a marginal effect. Thirty-eight international studies contributed data for 46,450 breast cancer cases and 42,461 controls of European origin as part of a multi-consortium project (COGS). First, SNPs......Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. We aimed to assess all two-way interactions in breast cancer...... 10(-10)). In summary, we observed little evidence of two-way SNP interactions in breast cancer susceptibility, despite the large number of SNPs with potential marginal effects considered and the very...

Interactive three-dimensional visualization and creation of geometries for Monte Carlo calculations

International Nuclear Information System (INIS)

Theis, C.; Buchegger, K.H.; Brugger, M.; Forkel-Wirth, D.; Roesler, S.; Vincke, H.

2006-01-01

The implementation of three-dimensional geometries for the simulation of radiation transport problems is a very time-consuming task. Each particle transport code supplies its own scripting language and syntax for creating the geometries. All of them are based on the Constructive Solid Geometry scheme requiring textual description. This makes the creation a tedious and error-prone task, which is especially hard to master for novice users. The Monte Carlo code FLUKA comes with built-in support for creating two-dimensional cross-sections through the geometry and FLUKACAD, a custom-built converter to the commercial Computer Aided Design package AutoCAD, exists for 3D visualization. For other codes, like MCNPX, a couple of different tools are available, but they are often specifically tailored to the particle transport code and its approach used for implementing geometries. Complex constructive solid modeling usually requires very fast and expensive special purpose hardware, which is not widely available. In this paper SimpleGeo is presented, which is an implementation of a generic versatile interactive geometry modeler using off-the-shelf hardware. It is running on Windows, with a Linux version currently under preparation. This paper describes its functionality, which allows for rapid interactive visualization as well as generation of three-dimensional geometries, and also discusses critical issues regarding common CAD systems

Identification and analysis of genome-wide SNPs provide insight into signatures of selection and domestication in channel catfish (Ictalurus punctatus.

Directory of Open Access Journals (Sweden)

Luyang Sun

Full Text Available Domestication and selection for important performance traits can impact the genome, which is most often reflected by reduced heterozygosity in and surrounding genes related to traits affected by selection. In this study, analysis of the genomic impact caused by domestication and artificial selection was conducted by investigating the signatures of selection using single nucleotide polymorphisms (SNPs in channel catfish (Ictalurus punctatus. A total of 8.4 million candidate SNPs were identified by using next generation sequencing. On average, the channel catfish genome harbors one SNP per 116 bp. Approximately 6.6 million, 5.3 million, 4.9 million, 7.1 million and 6.7 million SNPs were detected in the Marion, Thompson, USDA103, Hatchery strain, and wild population, respectively. The allele frequencies of 407,861 SNPs differed significantly between the domestic and wild populations. With these SNPs, 23 genomic regions with putative selective sweeps were identified that included 11 genes. Although the function for the majority of the genes remain unknown in catfish, several genes with known function related to aquaculture performance traits were included in the regions with selective sweeps. These included hypoxia-inducible factor 1β. HIFιβ.. and the transporter gene ATP-binding cassette sub-family B member 5 (ABCB5. HIF1β. is important for response to hypoxia and tolerance to low oxygen levels is a critical aquaculture trait. The large numbers of SNPs identified from this study are valuable for the development of high-density SNP arrays for genetic and genomic studies of performance traits in catfish.

iCanPlot: visual exploration of high-throughput omics data using interactive Canvas plotting.

Directory of Open Access Journals (Sweden)

Amit U Sinha

Full Text Available Increasing use of high throughput genomic scale assays requires effective visualization and analysis techniques to facilitate data interpretation. Moreover, existing tools often require programming skills, which discourages bench scientists from examining their own data. We have created iCanPlot, a compelling platform for visual data exploration based on the latest technologies. Using the recently adopted HTML5 Canvas element, we have developed a highly interactive tool to visualize tabular data and identify interesting patterns in an intuitive fashion without the need of any specialized computing skills. A module for geneset overlap analysis has been implemented on the Google App Engine platform: when the user selects a region of interest in the plot, the genes in the region are analyzed on the fly. The visualization and analysis are amalgamated for a seamless experience. Further, users can easily upload their data for analysis--which also makes it simple to share the analysis with collaborators. We illustrate the power of iCanPlot by showing an example of how it can be used to interpret histone modifications in the context of gene expression.

dbSMR: a novel resource of genome-wide SNPs affecting microRNA mediated regulation

Directory of Open Access Journals (Sweden)

Hariharan Manoj

2009-04-01

Full Text Available Abstract Background MicroRNAs (miRNAs regulate several biological processes through post-transcriptional gene silencing. The efficiency of binding of miRNAs to target transcripts depends on the sequence as well as intramolecular structure of the transcript. Single Nucleotide Polymorphisms (SNPs can contribute to alterations in the structure of regions flanking them, thereby influencing the accessibility for miRNA binding. Description The entire human genome was analyzed for SNPs in and around predicted miRNA target sites. Polymorphisms within 200 nucleotides that could alter the intramolecular structure at the target site, thereby altering regulation were annotated. Collated information was ported in a MySQL database with a user-friendly interface accessible through the URL: http://miracle.igib.res.in/dbSMR. Conclusion The database has a user-friendly interface where the information can be queried using either the gene name, microRNA name, polymorphism ID or transcript ID. Combination queries using 'AND' or 'OR' is also possible along with specifying the degree of change of intramolecular bonding with and without the polymorphism. Such a resource would enable researchers address questions like the role of regulatory SNPs in the 3' UTRs and population specific regulatory modulations in the context of microRNA targets.

Linkage Disequilibrium between STRPs and SNPs across the Human Genome

OpenAIRE

Payseur, Bret A.; Place, Michael; Weber, James L.

2008-01-01

Patterns of linkage disequilibrium (LD) reveal the action of evolutionary processes and provide crucial information for association mapping of disease genes. Although recent studies have described the landscape of LD among single nucleotide polymorphisms (SNPs) from across the human genome, associations involving other classes of molecular variation remain poorly understood. In addition to recombination and population history, mutation rate and process are expected to shape LD. To test this i...

MSDD: a manually curated database of experimentally supported associations among miRNAs, SNPs and human diseases.

Science.gov (United States)

Yue, Ming; Zhou, Dianshuang; Zhi, Hui; Wang, Peng; Zhang, Yan; Gao, Yue; Guo, Maoni; Li, Xin; Wang, Yanxia; Zhang, Yunpeng; Ning, Shangwei; Li, Xia

2018-01-04

The MiRNA SNP Disease Database (MSDD, http://www.bio-bigdata.com/msdd/) is a manually curated database that provides comprehensive experimentally supported associations among microRNAs (miRNAs), single nucleotide polymorphisms (SNPs) and human diseases. SNPs in miRNA-related functional regions such as mature miRNAs, promoter regions, pri-miRNAs, pre-miRNAs and target gene 3'-UTRs, collectively called 'miRSNPs', represent a novel category of functional molecules. miRSNPs can lead to miRNA and its target gene dysregulation, and resulting in susceptibility to or onset of human diseases. A curated collection and summary of miRSNP-associated diseases is essential for a thorough understanding of the mechanisms and functions of miRSNPs. Here, we describe MSDD, which currently documents 525 associations among 182 human miRNAs, 197 SNPs, 153 genes and 164 human diseases through a review of more than 2000 published papers. Each association incorporates information on the miRNAs, SNPs, miRNA target genes and disease names, SNP locations and alleles, the miRNA dysfunctional pattern, experimental techniques, a brief functional description, the original reference and additional annotation. MSDD provides a user-friendly interface to conveniently browse, retrieve, download and submit novel data. MSDD will significantly improve our understanding of miRNA dysfunction in disease, and thus, MSDD has the potential to serve as a timely and valuable resource. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

Interactive Data Visualization for HIV Cohorts: Leveraging Data Exchange Standards to Share and Reuse Research Tools.

Directory of Open Access Journals (Sweden)

Meridith Blevins

Full Text Available To develop and disseminate tools for interactive visualization of HIV cohort data.If a picture is worth a thousand words, then an interactive video, composed of a long string of pictures, can produce an even richer presentation of HIV population dynamics. We developed an HIV cohort data visualization tool using open-source software (R statistical language. The tool requires that the data structure conform to the HIV Cohort Data Exchange Protocol (HICDEP, and our implementation utilized Caribbean, Central and South America network (CCASAnet data.This tool currently presents patient-level data in three classes of plots: (1 Longitudinal plots showing changes in measurements viewed alongside event probability curves allowing for simultaneous inspection of outcomes by relevant patient classes. (2 Bubble plots showing changes in indicators over time allowing for observation of group level dynamics. (3 Heat maps of levels of indicators changing over time allowing for observation of spatial-temporal dynamics. Examples of each class of plot are given using CCASAnet data investigating trends in CD4 count and AIDS at antiretroviral therapy (ART initiation, CD4 trajectories after ART initiation, and mortality.We invite researchers interested in this data visualization effort to use these tools and to suggest new classes of data visualization. We aim to contribute additional shareable tools in the spirit of open scientific collaboration and hope that these tools further the participation in open data standards like HICDEP by the HIV research community.

PIVOT: platform for interactive analysis and visualization of transcriptomics data.

Science.gov (United States)

Zhu, Qin; Fisher, Stephen A; Dueck, Hannah; Middleton, Sarah; Khaladkar, Mugdha; Kim, Junhyong

2018-01-05

Many R packages have been developed for transcriptome analysis but their use often requires familiarity with R and integrating results of different packages requires scripts to wrangle the datatypes. Furthermore, exploratory data analyses often generate multiple derived datasets such as data subsets or data transformations, which can be difficult to track. Here we present PIVOT, an R-based platform that wraps open source transcriptome analysis packages with a uniform user interface and graphical data management that allows non-programmers to interactively explore transcriptomics data. PIVOT supports more than 40 popular open source packages for transcriptome analysis and provides an extensive set of tools for statistical data manipulations. A graph-based visual interface is used to represent the links between derived datasets, allowing easy tracking of data versions. PIVOT further supports automatic report generation, publication-quality plots, and program/data state saving, such that all analysis can be saved, shared and reproduced. PIVOT will allow researchers with broad background to easily access sophisticated transcriptome analysis tools and interactively explore transcriptome datasets.

Study of 25 X-chromosome SNPs in the Portuguese

DEFF Research Database (Denmark)

Pereira, Vania; Tomas Mas, Carmen; Amorim, António

2011-01-01

The importance of X-chromosome markers in individual identifications, population genetics, forensics and kinship testing is getting wide recognition. In this work, we studied the distributions of 25 X-chromosome single nucleotide polymorphisms (X-SNPs) in population samples from Northern, Central...... and Southern Portugal (n=305). The data were also compared with previous data from the Mediterranean area confirming a general genetic homogeneity among populations in the region. The X-SNP distribution in the three Portuguese regional samples did not show any significant substructure and the X...

GLIDERS - A web-based search engine for genome-wide linkage disequilibrium between HapMap SNPs

Directory of Open Access Journals (Sweden)

Broxholme John

2009-10-01

Full Text Available Abstract Background A number of tools for the examination of linkage disequilibrium (LD patterns between nearby alleles exist, but none are available for quickly and easily investigating LD at longer ranges (>500 kb. We have developed a web-based query tool (GLIDERS: Genome-wide LInkage DisEquilibrium Repository and Search engine that enables the retrieval of pairwise associations with r2 ≥ 0.3 across the human genome for any SNP genotyped within HapMap phase 2 and 3, regardless of distance between the markers. Description GLIDERS is an easy to use web tool that only requires the user to enter rs numbers of SNPs they want to retrieve genome-wide LD for (both nearby and long-range. The intuitive web interface handles both manual entry of SNP IDs as well as allowing users to upload files of SNP IDs. The user can limit the resulting inter SNP associations with easy to use menu options. These include MAF limit (5-45%, distance limits between SNPs (minimum and maximum, r2 (0.3 to 1, HapMap population sample (CEU, YRI and JPT+CHB combined and HapMap build/release. All resulting genome-wide inter-SNP associations are displayed on a single output page, which has a link to a downloadable tab delimited text file. Conclusion GLIDERS is a quick and easy way to retrieve genome-wide inter-SNP associations and to explore LD patterns for any number of SNPs of interest. GLIDERS can be useful in identifying SNPs with long-range LD. This can highlight mis-mapping or other potential association signal localisation problems.

Orientation is different: Interaction between contour integration and feature contrasts in visual search.

Science.gov (United States)

Jingling, Li; Tseng, Chia-Huei; Zhaoping, Li

2013-09-10

Salient items usually capture attention and are beneficial to visual search. Jingling and Tseng (2013), nevertheless, have discovered that a salient collinear column can impair local visual search. The display used in that study had 21 rows and 27 columns of bars, all uniformly horizontal (or vertical) except for one column of bars orthogonally oriented to all other bars, making this unique column of collinear (or noncollinear) bars salient in the display. Observers discriminated an oblique target bar superimposed on one of the bars either in the salient column or in the background. Interestingly, responses were slower for a target in a salient collinear column than in the background. This opens a theoretical question of how contour integration interacts with salience computation, which is addressed here by an examination of how salience modulated the search impairment from the collinear column. We show that the collinear column needs to have a high orientation contrast with its neighbors to exert search interference. A collinear column of high contrast in color or luminance did not produce the same impairment. Our results show that orientation-defined salience interacted with collinear contour differently from other feature dimensions, which is consistent with the neuronal properties in V1.

Spectral study of interaction between chondroitin sulfate and nanoparticles and its application in quantitative analysis

Science.gov (United States)

Ma, Yi; Wei, Maojie; Zhang, Xiao; Zhao, Ting; Liu, Xiumei; Zhou, Guanglian

2016-01-01

In this work, the interaction between chondroitin sulfate (CS) and gold nanoparticles (GNPs) and silver nanoparticles (SNPs) was characterized for the first time. Plasma resonance scattering (PRS) and plasma resonance absorption (PRA) were used to investigate the characteristics of their spectrum. The results suggested that the CS with negative charge could interact with metal nanoparticles with negative charge and the adsorption of CS on the surface of SNPs was more regular than that of GNPs. The resonance scattering spectra also further confirmed the interaction between CS and SNPs. A new method for detection of CS based on the interaction was developed. CS concentrations in the range of 0.02-3.5 μg/mL were proportional to the decreases of absorbance of SNPs. Compared with other reported methods, the proposed method is simple and workable without complex process, high consumption and expensive equipments. The developed method was applied to the determination of the CS contents from different biological origins and the results were compared with those obtained by the method of Chinese Pharmacopeia. The effects of matrix in plasma and other glycosaminoglycans on the determination of CS were also investigated. The results showed that a small quantity of blood plasma had no effect on the determination of CS and when the concentration ratio of CS to heparin was more than 10:1, the influence of heparin on the detection of CS could be ignored. This work gave a specific research direction for the detection of CS in the presence of metal nanoparticles.

Typing of 49 autosomal SNPs by SNaPshot in the Slovenian population

DEFF Research Database (Denmark)

Drobnic, Katja; Børsting, Claus; Rockenbauer, Eszter

2010-01-01

A total of 157 unrelated individuals residing in Slovenia were typed for 49 of the autosomal single nucleotide polymorphisms (SNPs) in the SNPforID 52plex with the SNaPshot assay. We obtained full SNP profiles in all but one individual and perfect concordance was obtained in duplicated analyses...

A multilevel layout algorithm for visualizing physical and genetic interaction networks, with emphasis on their modular organization.

Science.gov (United States)

Tuikkala, Johannes; Vähämaa, Heidi; Salmela, Pekka; Nevalainen, Olli S; Aittokallio, Tero

2012-03-26

Graph drawing is an integral part of many systems biology studies, enabling visual exploration and mining of large-scale biological networks. While a number of layout algorithms are available in popular network analysis platforms, such as Cytoscape, it remains poorly understood how well their solutions reflect the underlying biological processes that give rise to the network connectivity structure. Moreover, visualizations obtained using conventional layout algorithms, such as those based on the force-directed drawing approach, may become uninformative when applied to larger networks with dense or clustered connectivity structure. We implemented a modified layout plug-in, named Multilevel Layout, which applies the conventional layout algorithms within a multilevel optimization framework to better capture the hierarchical modularity of many biological networks. Using a wide variety of real life biological networks, we carried out a systematic evaluation of the method in comparison with other layout algorithms in Cytoscape. The multilevel approach provided both biologically relevant and visually pleasant layout solutions in most network types, hence complementing the layout options available in Cytoscape. In particular, it could improve drawing of large-scale networks of yeast genetic interactions and human physical interactions. In more general terms, the biological evaluation framework developed here enables one to assess the layout solutions from any existing or future graph drawing algorithm as well as to optimize their performance for a given network type or structure. By making use of the multilevel modular organization when visualizing biological networks, together with the biological evaluation of the layout solutions, one can generate convenient visualizations for many network biology applications.

Is a picture worth a thousand words? The interaction of visual display and attribute representation in attenuating framing bias}

Directory of Open Access Journals (Sweden)

Eyal Gamliel

2013-07-01

Full Text Available The attribute framing bias is a well-established phenomenon, in which an object or an event is evaluated more favorably when presented in a positive frame such as ``the half full glass'' than when presented in the complementary negative framing. Given that previous research showed that visual aids can attenuate this bias, the current research explores the factors underlying the attenuating effect of visual aids. In a series of three experiments, we examined how attribute framing bias is affected by two factors: (a The display mode---verbal versus visual; and (b the representation of the critical attribute---whether one outcome, either the positive or the negative, is represented or both outcomes are represented. In Experiment 1 a marginal attenuation of attribute framing bias was obtained when verbal description of either positive or negative information was accompanied by corresponding visual representation. In Experiment 2 similar marginal attenuation was obtained when both positive and negative outcomes were verbally represented. In Experiment 3, where the verbal description represented both positive and negative outcomes, significant attenuation was obtained when it was accompanied by a visual display that represented a single outcome, and complete attenuation, totally eliminating the framing bias, was obtained when it was accompanied by a visual display that represented both outcomes. Thus, our findings showed that interaction between the display mode and the representation of the critical attribute attenuated the framing bias. Theoretical and practical implications of the interaction between verbal description, visual aids and representation of the critical attribute are discussed, and future research is suggested.

C-State: an interactive web app for simultaneous multi-gene visualization and comparative epigenetic pattern search.

Science.gov (United States)

Sowpati, Divya Tej; Srivastava, Surabhi; Dhawan, Jyotsna; Mishra, Rakesh K

2017-09-13

Comparative epigenomic analysis across multiple genes presents a bottleneck for bench biologists working with NGS data. Despite the development of standardized peak analysis algorithms, the identification of novel epigenetic patterns and their visualization across gene subsets remains a challenge. We developed a fast and interactive web app, C-State (Chromatin-State), to query and plot chromatin landscapes across multiple loci and cell types. C-State has an interactive, JavaScript-based graphical user interface and runs locally in modern web browsers that are pre-installed on all computers, thus eliminating the need for cumbersome data transfer, pre-processing and prior programming knowledge. C-State is unique in its ability to extract and analyze multi-gene epigenetic information. It allows for powerful GUI-based pattern searching and visualization. We include a case study to demonstrate its potential for identifying user-defined epigenetic trends in context of gene expression profiles.

Association of apolipoprotein e gene polymorphisms with blood lipids and their interaction with dietary factors

DEFF Research Database (Denmark)

Shatwan, Israa M.; Winther, Kristian Hillert; Ellahi, Basma

2018-01-01

of two single nucleotide polymorphisms (SNPs) at LPL, seven tagging SNPs at the APOE gene, and a common APOE haplotype (two SNPs) with blood lipids, and examined the interaction of these SNPs with dietary factors. Methods: The population studied for this investigation included 660 individuals from...... the Prevention of Cancer by Intervention with Selenium (PRECISE) study who supplied baseline data. The findings of the PRECISE study were further replicated using 1238 individuals from the Caerphilly Prospective cohort (CaPS). Dietary intake was assessed using a validated food-frequency questionnaire (FFQ......Background: Several candidate genes have been identified in relation to lipid metabolism, and among these, lipoprotein lipase (LPL) and apolipoprotein E (APOE) gene polymorphisms are major sources of genetically determined variation in lipid concentrations. This study investigated the association...

Effects of interactions between common genetic variants and alcohol consumption on colorectal cancer risk.

Science.gov (United States)

Song, Nan; Shin, Aesun; Oh, Jae Hwan; Kim, Jeongseon

2018-01-19

Genome-wide association studies (GWAS) have identified approximately 40 common genetic loci associated with colorectal cancer risk. To investigate possible gene-environment interactions (GEIs) between GWAS-identified single-nucleotide polymorphisms (SNPs) and alcohol consumption with respect to colorectal cancer, a hospital-based case-control study was conducted. Higher levels of alcohol consumption as calculated based on a standardized definition of a drink (1 drink=12.5g of ethanol) were associated with increased risk of colorectal cancer (OR=2.47, 95% CI=1.62-3.76 for heavy drinkers [>50g/day] compared to never drinkers; p trend colorectal cancer associated with the G allele of rs6687758 tended to increase among individuals in the heavier alcohol consumption strata. A statistically significant association between rs6687758 and colorectal cancer risk was observed among moderate alcohol drinkers who consumed between >12.5 and ≤50g of alcohol per day (OR=1.46, 95% CI=1.01-2.11). A total of 2,109 subjects (703 colorectal cancer patients and 1,406 healthy controls) were recruited from the Korean National Cancer Center. For genotyping, 30 GWAS-identified SNPs were selected. A logistic regression model was used to evaluate associations of SNPs and alcohol consumption with colorectal cancer risk. We also tested GEIs between SNPs and alcohol consumption using a logistic model with multiplicative interaction terms. Our results suggest that SNP rs6687758 at 1q41 may interact with alcohol consumption in the etiology of colorectal cancer.

Supplementary data: SNPs in genes with copy number variation: A ...

Indian Academy of Sciences (India)

The bases at equivalent positions of the duplicon(s) for each SNP are shown in table 1 for HBA1 and table 2 (a, b) for PSORS1 and GH1. Table 1. SNPs of haemoglobin: α-locus 1 (NCBI Build 126). Nucleotide. Wild type bases. SNP ID change. Location. HbA1. HbA2. HbZ. HbQ1. HbM rs28928888. T>C exon 1. T. T. C. T. C.

Visualization and Interaction in Research, Teaching, and Scientific Communication

Science.gov (United States)

Ammon, C. J.

2017-12-01

Modern computing provides many tools for exploring observations, numerical calculations, and theoretical relationships. The number of options is, in fact, almost overwhelming. But the choices provide those with modest programming skills opportunities to create unique views of scientific information and to develop deeper insights into their data, their computations, and the underlying theoretical data-model relationships. I present simple examples of using animation and human-computer interaction to explore scientific data and scientific-analysis approaches. I illustrate how valuable a little programming ability can free scientists from the constraints of existing tools and can facilitate the development of deeper appreciation data and models. I present examples from a suite of programming languages ranging from C to JavaScript including the Wolfram Language. JavaScript is valuable for sharing tools and insight (hopefully) with others because it is integrated into one of the most powerful communication tools in human history, the web browser. Although too much of that power is often spent on distracting advertisements, the underlying computation and graphics engines are efficient, flexible, and almost universally available in desktop and mobile computing platforms. Many are working to fulfill the browser's potential to become the most effective tool for interactive study. Open-source frameworks for visualizing everything from algorithms to data are available, but advance rapidly. One strategy for dealing with swiftly changing tools is to adopt common, open data formats that are easily adapted (often by framework or tool developers). I illustrate the use of animation and interaction in research and teaching with examples from earthquake seismology.

SeeDB: Efficient Data-Driven Visualization Recommendations to Support Visual Analytics.

Science.gov (United States)

Vartak, Manasi; Rahman, Sajjadur; Madden, Samuel; Parameswaran, Aditya; Polyzotis, Neoklis

2015-09-01

Data analysts often build visualizations as the first step in their analytical workflow. However, when working with high-dimensional datasets, identifying visualizations that show relevant or desired trends in data can be laborious. We propose SeeDB, a visualization recommendation engine to facilitate fast visual analysis: given a subset of data to be studied, SeeDB intelligently explores the space of visualizations, evaluates promising visualizations for trends, and recommends those it deems most "useful" or "interesting". The two major obstacles in recommending interesting visualizations are (a) scale : evaluating a large number of candidate visualizations while responding within interactive time scales, and (b) utility : identifying an appropriate metric for assessing interestingness of visualizations. For the former, SeeDB introduces pruning optimizations to quickly identify high-utility visualizations and sharing optimizations to maximize sharing of computation across visualizations. For the latter, as a first step, we adopt a deviation-based metric for visualization utility, while indicating how we may be able to generalize it to other factors influencing utility. We implement SeeDB as a middleware layer that can run on top of any DBMS. Our experiments show that our framework can identify interesting visualizations with high accuracy. Our optimizations lead to multiple orders of magnitude speedup on relational row and column stores and provide recommendations at interactive time scales. Finally, we demonstrate via a user study the effectiveness of our deviation-based utility metric and the value of recommendations in supporting visual analytics.

Typing of Y chromosome SNPs with multiplex PCR methods

DEFF Research Database (Denmark)

Sanchez Sanchez, Juan Jose; Børsting, Claus; Morling, Niels

2005-01-01

We describe a method for the simultaneous typing of Y-chromosome single nucleotide polymorphism (SNP) markers by means of multiplex polymerase chain reaction (PCR) strategies that allow the detection of 35 Y chromosome SNPs on 25 amplicons from 100 to 200 pg of chromosomal deoxyribonucleic acid...... factors for the creation of larger SNP typing PCR multiplexes include careful selection of primers for the primary amplification and the SBE reaction, use of DNA primers with homogenous composition, and balancing the primer concentrations for both the amplification and the SBE reactions....

First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene

Directory of Open Access Journals (Sweden)

Hussein Sheikh Ali Mohamoud

2014-01-01

Full Text Available GalNAc-T1, a key candidate of GalNac-transferases genes family that is involved in mucin-type O-linked glycosylation pathway, is expressed in most biological tissues and cell types. Despite the reported association of GalNAc-T1 gene mutations with human disease susceptibility, the comprehensive computational analysis of coding, noncoding and regulatory SNPs, and their functional impacts on protein level, still remains unknown. Therefore, sequence- and structure-based computational tools were employed to screen the entire listed coding SNPs of GalNAc-T1 gene in order to identify and characterize them. Our concordant in silico analysis by SIFT, PolyPhen-2, PANTHER-cSNP, and SNPeffect tools, identified the potential nsSNPs (S143P, G258V, and Y414D variants from 18 nsSNPs of GalNAc-T1. Additionally, 2 regulatory SNPs (rs72964406 and #x26; rs34304568 were also identified in GalNAc-T1 by using FastSNP tool. Using multiple computational approaches, we have systematically classified the functional mutations in regulatory and coding regions that can modify expression and function of GalNAc-T1 enzyme. These genetic variants can further assist in better understanding the wide range of disease susceptibility associated with the mucin-based cell signalling and pathogenic binding, and may help to develop novel therapeutic elements for associated diseases.

TOUCH INTERACTION WITH 3D GEOGRAPHICAL VISUALIZATION ON WEB: SELECTED TECHNOLOGICAL AND USER ISSUES

Directory of Open Access Journals (Sweden)

L. Herman

2016-10-01

Full Text Available The use of both 3D visualization and devices with touch displays is increasing. In this paper, we focused on the Web technologies for 3D visualization of spatial data and its interaction via touch screen gestures. At the first stage, we compared the support of touch interaction in selected JavaScript libraries on different hardware (desktop PCs with touch screens, tablets, and smartphones and software platforms. Afterward, we realized simple empiric test (within-subject design, 6 participants, 2 simple tasks, LCD touch monitor Acer and digital terrain models as stimuli focusing on the ability of users to solve simple spatial tasks via touch screens. An in-house testing web tool was developed and used based on JavaScript, PHP, and X3DOM languages and Hammer.js libraries. The correctness of answers, speed of users’ performances, used gestures, and a simple gesture metric was recorded and analysed. Preliminary results revealed that the pan gesture is most frequently used by test participants and it is also supported by the majority of 3D libraries. Possible gesture metrics and future developments including the interpersonal differences are discussed in the conclusion.

Identification of pummelo cultivars by using a panel of 25 selected SNPs and 12 DNA segments.

Directory of Open Access Journals (Sweden)

Bo Wu

Full Text Available Pummelo cultivars are usually difficult to identify morphologically, especially when fruits are unavailable. The problem was addressed in this study with the use of two methods: high resolution melting analysis of SNPs and sequencing of DNA segments. In the first method, a set of 25 SNPs with high polymorphic information content were selected from SNPs predicted by analyzing ESTs and sequenced DNA segments. High resolution melting analysis was then used to genotype 260 accessions including 55 from Myanmar, and 178 different genotypes were thus identified. A total of 99 cultivars were assigned to 86 different genotypes since the known somatic mutants were identical to their original genotypes at the analyzed SNP loci. The Myanmar samples were genotypically different from each other and from all other samples, indicating they were derived from sexual propagation. Statistical analysis showed that the set of SNPs was powerful enough for identifying at least 1000 pummelo genotypes, though the discrimination power varied in different pummelo groups and populations. In the second method, 12 genomic DNA segments of 24 representative pummelo accessions were sequenced. Analysis of the sequences revealed the existence of a high haplotype polymorphism in pummelo, and statistical analysis showed that the segments could be used as genetic barcodes that should be informative enough to allow reliable identification of 1200 pummelo cultivars. The high level of haplotype diversity and an apparent population structure shown by DNA segments and by SNP genotypes, respectively, were discussed in relation to the origin and domestication of the pummelo species.

Visualization rhetoric: framing effects in narrative visualization.

Science.gov (United States)

Hullman, Jessica; Diakopoulos, Nicholas

2011-12-01

Narrative visualizations combine conventions of communicative and exploratory information visualization to convey an intended story. We demonstrate visualization rhetoric as an analytical framework for understanding how design techniques that prioritize particular interpretations in visualizations that "tell a story" can significantly affect end-user interpretation. We draw a parallel between narrative visualization interpretation and evidence from framing studies in political messaging, decision-making, and literary studies. Devices for understanding the rhetorical nature of narrative information visualizations are presented, informed by the rigorous application of concepts from critical theory, semiotics, journalism, and political theory. We draw attention to how design tactics represent additions or omissions of information at various levels-the data, visual representation, textual annotations, and interactivity-and how visualizations denote and connote phenomena with reference to unstated viewing conventions and codes. Classes of rhetorical techniques identified via a systematic analysis of recent narrative visualizations are presented, and characterized according to their rhetorical contribution to the visualization. We describe how designers and researchers can benefit from the potentially positive aspects of visualization rhetoric in designing engaging, layered narrative visualizations and how our framework can shed light on how a visualization design prioritizes specific interpretations. We identify areas where future inquiry into visualization rhetoric can improve understanding of visualization interpretation. © 2011 IEEE

Genetic susceptibility loci, environmental exposures, and Parkinson's disease: a case-control study of gene-environment interactions.

Science.gov (United States)

Chung, Sun Ju; Armasu, Sebastian M; Anderson, Kari J; Biernacka, Joanna M; Lesnick, Timothy G; Rider, David N; Cunningham, Julie M; Ahlskog, J Eric; Frigerio, Roberta; Maraganore, Demetrius M

2013-06-01

Prior studies causally linked mutations in SNCA, MAPT, and LRRK2 genes with familial Parkinsonism. Genome-wide association studies have demonstrated association of single nucleotide polymorphisms (SNPs) in those three genes with sporadic Parkinson's disease (PD) susceptibility worldwide. Here we investigated the interactions between SNPs in those three susceptibility genes and environmental exposures (pesticides application, tobacco smoking, coffee drinking, and alcohol drinking) also associated with PD susceptibility. Pairwise interactions between environmental exposures and 18 variants (16 SNPs and two variable number tandem repeats, or "VNTRs") in SNCA, MAPT and LRRK2, were investigated using data from 1098 PD cases from the upper Midwest, USA and 1098 matched controls. Environmental exposures were assessed using a validated telephone interview script. Five pairwise interactions had uncorrected P-values coffee drinking × MAPT H1/H2 haplotype or MAPT rs16940806, and alcohol drinking × MAPT rs2435211. None of these interactions remained significant after Bonferroni correction. Secondary analyses in strata defined by type of control (sibling or unrelated), sex, or age at onset of the case also did not identify significant interactions after Bonferroni correction. This study documented limited pairwise interactions between established genetic and environmental risk factors for PD; however, the associations were not significant after correction for multiple testing. Copyright © 2013 Elsevier Ltd. All rights reserved.

Immersive visualization of dynamic CFD model results

International Nuclear Information System (INIS)

Comparato, J.R.; Ringel, K.L.; Heath, D.J.

2004-01-01

With immersive visualization the engineer has the means for vividly understanding problem causes and discovering opportunities to improve design. Software can generate an interactive world in which collaborators experience the results of complex mathematical simulations such as computational fluid dynamic (CFD) modeling. Such software, while providing unique benefits over traditional visualization techniques, presents special development challenges. The visualization of large quantities of data interactively requires both significant computational power and shrewd data management. On the computational front, commodity hardware is outperforming large workstations in graphical quality and frame rates. Also, 64-bit commodity computing shows promise in enabling interactive visualization of large datasets. Initial interactive transient visualization methods and examples are presented, as well as development trends in commodity hardware and clustering. Interactive, immersive visualization relies on relevant data being stored in active memory for fast response to user requests. For large or transient datasets, data management becomes a key issue. Techniques for dynamic data loading and data reduction are presented as means to increase visualization performance. (author)

Experimental visualization coalesced interaction of sliding bubble near wall in vertical narrow rectangular channel

International Nuclear Information System (INIS)

Xu Jianjun; Chen Bingde; Wang Xiaojun

2011-01-01

The characteristic of the coalesced sliding bubble was visually observed by wide side and narrow side of the narrow rectangular channel using high speed digital camera. The results show that the coalesced time among the sliding bubbles is quick, and the new formation of coalesced bubble is not lift-off, and it continues to slide along the heated surface in low heat flux for the isolated bubble region. The influence region is about 2 times projected area of the sliding bubble when the sliding bubbles begin to interact. The sliding bubble velocities increase duo to the interaction among the bubbles, which contributes to enhance heat transfer of this region. Finally, the effect of coalesced interaction of growing bubble in the nucleation sites on bubble lift-off was discussed and analysed. (authors)

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium.

Science.gov (United States)

Milne, Roger L; Herranz, Jesús; Michailidou, Kyriaki; Dennis, Joe; Tyrer, Jonathan P; Zamora, M Pilar; Arias-Perez, José Ignacio; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Wang, Qin; Bolla, Manjeet K; Czene, Kamila; Eriksson, Mikael; Humphreys, Keith; Darabi, Hatef; Li, Jingmei; Anton-Culver, Hoda; Neuhausen, Susan L; Ziogas, Argyrios; Clarke, Christina A; Hopper, John L; Dite, Gillian S; Apicella, Carmel; Southey, Melissa C; Chenevix-Trench, Georgia; Swerdlow, Anthony; Ashworth, Alan; Orr, Nicholas; Schoemaker, Minouk; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Bojesen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Wang, Xianshu; Olson, Janet E; Vachon, Celine; Purrington, Kristen; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Dunning, Alison M; Shah, Mitul; Guénel, Pascal; Truong, Thérèse; Sanchez, Marie; Mulot, Claire; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volker; Stegmaier, Christa; Lindblom, Annika; Margolin, Sara; Hooning, Maartje J; Hollestelle, Antoinette; Collée, J Margriet; Jager, Agnes; Cox, Angela; Brock, Ian W; Reed, Malcolm W R; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Simard, Jacques; Dumont, Martine; Soucy, Penny; Dörk, Thilo; Bogdanova, Natalia V; Hamann, Ute; Försti, Asta; Rüdiger, Thomas; Ulmer, Hans-Ulrich; Fasching, Peter A; Häberle, Lothar; Ekici, Arif B; Beckmann, Matthias W; Fletcher, Olivia; Johnson, Nichola; dos Santos Silva, Isabel; Peto, Julian; Radice, Paolo; Peterlongo, Paolo; Peissel, Bernard; Mariani, Paolo; Giles, Graham G; Severi, Gianluca; Baglietto, Laura; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael; Miller, Nicola; Marme, Federik; Burwinkel, Barbara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Lambrechts, Diether; Yesilyurt, Betul T; Floris, Giuseppe; Leunen, Karin; Alnæs, Grethe Grenaker; Kristensen, Vessela; Børresen-Dale, Anne-Lise; García-Closas, Montserrat; Chanock, Stephen J; Lissowska, Jolanta; Figueroa, Jonine D; Schmidt, Marjanka K; Broeks, Annegien; Verhoef, Senno; Rutgers, Emiel J; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Couch, Fergus J; Toland, Amanda E; Yannoukakos, Drakoulis; Pharoah, Paul D P; Hall, Per; Benítez, Javier; Malats, Núria; Easton, Douglas F

2014-04-01

Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. We aimed to assess all two-way interactions in breast cancer susceptibility between 70,917 single nucleotide polymorphisms (SNPs) selected primarily based on prior evidence of a marginal effect. Thirty-eight international studies contributed data for 46,450 breast cancer cases and 42,461 controls of European origin as part of a multi-consortium project (COGS). First, SNPs were preselected based on evidence (P 10(-10)). In summary, we observed little evidence of two-way SNP interactions in breast cancer susceptibility, despite the large number of SNPs with potential marginal effects considered and the very large sample size. This finding may have important implications for risk prediction, simplifying the modelling required. Further comprehensive, large-scale genome-wide interaction studies may identify novel interacting loci if the inherent logistic and computational challenges can be overcome.

Analyzing Spatiotemporal Anomalies through Interactive Visualization

Directory of Open Access Journals (Sweden)

Tao Zhang

2014-06-01

Full Text Available As we move into the big data era, data grows not just in size, but also in complexity, containing a rich set of attributes, including location and time information, such as data from mobile devices (e.g., smart phones, natural disasters (e.g., earthquake and hurricane, epidemic spread, etc. We are motivated by the rising challenge and build a visualization tool for exploring generic spatiotemporal data, i.e., records containing time location information and numeric attribute values. Since the values often evolve over time and across geographic regions, we are particularly interested in detecting and analyzing the anomalous changes over time/space. Our analytic tool is based on geographic information system and is combined with spatiotemporal data mining algorithms, as well as various data visualization techniques, such as anomaly grids and anomaly bars superimposed on the map. We study how effective the tool may guide users to find potential anomalies through demonstrating and evaluating over publicly available spatiotemporal datasets. The tool for spatiotemporal anomaly analysis and visualization is useful in many domains, such as security investigation and monitoring, situation awareness, etc.

Design of a High Density SNP Genotyping Assay in the Pig Using SNPs Identified and Characterized by Next Generation Sequencing Technology

DEFF Research Database (Denmark)

Ramos, Antonio M; Crooijmans, Richard P M A; Nabeel, Nabeel A

2009-01-01

Background The dissection of complex traits of economic importance to the pig industry requires the availability of a significant number of genetic markers, such as single nucleotide polymorphisms (SNPs). This study was conducted to discover several hundreds of thousands of porcine SNPs using nex...

Genome-wide divergence, haplotype distribution and population demographic histories for Gossypium hirsutum and Gossypium barbadense as revealed by genome-anchored SNPs

Science.gov (United States)

Use of 10,129 singleton SNPs of known genomic location in tetraploid cotton provided unique opportunities to characterize genome-wide diversity among 440 Gossypium hirsutum and 219 G. barbadense cultivars and landrace accessions of widespread origin. Using the SNPs distributed genome-wide, we exami...

Fuel-coolant interaction visualization test for in-vessel corium retention external reactor vessel cooling (IVR-ERVC) condition

Energy Technology Data Exchange (ETDEWEB)

Na, Young Su; Hong, Seong Ho; Song, Jin Ho; Hong, Seong Wan [Severe Accident and PHWR Safety Research Division, Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

2016-12-15

A visualization test of the fuel-coolant interaction in the Test for Real cOrium Interaction with water (TROI) test facility was carried out. To experimentally simulate the In-Vessel corium Retention (IVR)- External Reactor Vessel Cooling (ERVC) conditions, prototypic corium was released directly into the coolant water without a free fall in a gas phase before making contact with the coolant. Corium (34.39 kg) consisting of uranium oxide and zirconium oxide with a weight ratio of 8:2 was superheated, and 22.54 kg of the 34.39 kg corium was passed through water contained in a transparent interaction vessel. An image of the corium jet behavior in the coolant was taken by a high-speed camera every millisecond. Thermocouple junctions installed in the vertical direction of the coolant were cut sequentially by the falling corium jet. It was clearly observed that the visualization image of the corium jet taken during the fuel-coolant interaction corresponded with the temperature variations in the direction of the falling melt. The corium penetrated through the coolant, and the jet leading edge velocity was 2.0 m/s. Debris smaller than 1 mm was 15% of the total weight of the debris collected after a fuel-coolant interaction test, and the mass median diameter was 2.9 mm.

A Tool for Interactive Data Visualization: Application to Over 10,000 Brain Imaging and Phantom MRI Data Sets

OpenAIRE

Panta, Sandeep R.; Wang, Runtang; Fries, Jill; Kalyanam, Ravi; Speer, Nicole; Banich, Marie; Kiehl, Kent; King, Margaret; Milham, Michael; Wager, Tor D.; Turner, Jessica A.; Plis, Sergey M.; Calhoun, Vince D.

2016-01-01

In this paper we propose a web-based approach for quick visualization of big data from brain magnetic resonance imaging (MRI) scans using a combination of an automated image capture and processing system, nonlinear embedding, and interactive data visualization tools. We draw upon thousands of MRI scans captured via the COllaborative Imaging and Neuroinformatics Suite (COINS). We then interface the output of several analysis pipelines based on structural and functional data to a t-distributed ...

Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease.

Science.gov (United States)

Chen, Xiaomin; Chen, Xiaoying; Xu, Yan; Yang, William; Wu, Nan; Ye, Huadan; Yang, Jack Y; Hong, Qingxiao; Xin, Yanfei; Yang, Mary Qu; Deng, Youping; Duan, Shiwei

2016-07-25

Chronic inflammation has been widely considered to be the major risk factor of coronary heart disease (CHD). The goal of our study was to explore the possible association with CHD for inflammation-related single nucleotide polymorphisms (SNPs) involved in cytosine-phosphate-guanine (CpG) dinucleotides. A total of 784 CHD patients and 739 non-CHD controls were recruited from Zhejiang Province, China. Using the Sequenom MassARRAY platform, we measured the genotypes of six inflammation-related CpG-SNPs, including IL1B rs16944, IL1R2 rs2071008, PLA2G7 rs9395208, FAM5C rs12732361, CD40 rs1800686, and CD36 rs2065666). Allele and genotype frequencies were compared between CHD and non-CHD individuals using the CLUMP22 software with 10,000 Monte Carlo simulations. Allelic tests showed that PLA2G7 rs9395208 and CD40 rs1800686 were significantly associated with CHD. Moreover, IL1B rs16944, PLA2G7 rs9395208, and CD40 rs1800686 were shown to be associated with CHD under the dominant model. Further gender-based subgroup tests showed that one SNP (CD40 rs1800686) and two SNPs (FAM5C rs12732361 and CD36 rs2065666) were associated with CHD in females and males, respectively. And the age-based subgroup tests indicated that PLA2G7 rs9395208, IL1B rs16944, and CD40 rs1800686 were associated with CHD among individuals younger than 55, younger than 65, and over 65, respectively. In conclusion, all the six inflammation-related CpG-SNPs (rs16944, rs2071008, rs12732361, rs2065666, rs9395208, and rs1800686) were associated with CHD in the combined or subgroup tests, suggesting an important role of inflammation in the risk of CHD.

Visualizer: 3D Gridded Data Visualization Software for Geoscience Education and Research

Science.gov (United States)

Harwood, C.; Billen, M. I.; Kreylos, O.; Jadamec, M.; Sumner, D. Y.; Kellogg, L. H.; Hamann, B.

2008-12-01

In both research and education learning is an interactive and iterative process of exploring and analyzing data or model results. However, visualization software often presents challenges on the path to learning because it assumes the user already knows the locations and types of features of interest, instead of enabling flexible and intuitive examination of results. We present examples of research and teaching using the software, Visualizer, specifically designed to create an effective and intuitive environment for interactive, scientific analysis of 3D gridded data. Visualizer runs in a range of 3D virtual reality environments (e.g., GeoWall, ImmersaDesk, or CAVE), but also provides a similar level of real-time interactivity on a desktop computer. When using Visualizer in a 3D-enabled environment, the software allows the user to interact with the data images as real objects, grabbing, rotating or walking around the data to gain insight and perspective. On the desktop, simple features, such as a set of cross-bars marking the plane of the screen, provide extra 3D spatial cues that allow the user to more quickly understand geometric relationships within the data. This platform portability allows the user to more easily integrate research results into classroom demonstrations and exercises, while the interactivity provides an engaging environment for self-directed and inquiry-based learning by students. Visualizer software is freely available for download (www.keckcaves.org) and runs on Mac OSX and Linux platforms.