Iterative Visual Analytics and its Applications in Bioinformatics

Indiana University-Purdue University Indianapolis (IUPUI)You, Qian. Ph.D., Purdue University, December, 2010. Iterative Visual Analytics and its Applications in Bioinformatics. Major Professors: Shiaofen Fang and Luo Si. Visual Analytics is a new and developing field that addresses the challenges of knowledge discoveries from the massive amount of available data. It facilitates humans‘ reasoning capabilities with interactive visual interfaces for exploratory data analysis tasks, where automatic data mining methods fall short due to the lack of the pre-defined objective functions. Analyzing the large volume of data sets for biological discoveries raises similar challenges. The domain knowledge of biologists and bioinformaticians is critical in the hypothesis-driven discovery tasks. Yet developing visual analytics frameworks for bioinformatic applications is still in its infancy. In this dissertation, we propose a general visual analytics framework – Iterative Visual Analytics (IVA) – to address some of the challenges in the current research. The framework consists of three progressive steps to explore data sets with the increased complexity: Terrain Surface Multi-dimensional Data Visualization, a new multi-dimensional technique that highlights the global patterns from the profile of a large scale network. It can lead users‘ attention to characteristic regions for discovering otherwise hidden knowledge; Correlative Multi-level Terrain Surface Visualization, a new visual platform that provides the overview and boosts the major signals of the numeric correlations among nodes in interconnected networks of different contexts. It enables users to gain critical insights and perform data analytical tasks in the context of multiple correlated networks; and the Iterative Visual Refinement Model, an innovative process that treats users‘ perceptions as the objective functions, and guides the users to form the optimal hypothesis by improving the desired visual patterns. It is a formalized model for interactive explorations to converge to optimal solutions. We also showcase our approach with bio-molecular data sets and demonstrate its effectiveness in several biomarker discovery applications

Visualizing genome and systems biology: technologies, tools, implementation techniques and trends, past, present and future.

"Α picture is worth a thousand words." This widely used adage sums up in a few words the notion that a successful visual representation of a concept should enable easy and rapid absorption of large amounts of information. Although, in general, the notion of capturing complex ideas using images is very appealing, would 1000 words be enough to describe the unknown in a research field such as the life sciences? Life sciences is one of the biggest generators of enormous datasets, mainly as a result of recent and rapid technological advances; their complexity can make these datasets incomprehensible without effective visualization methods. Here we discuss the past, present and future of genomic and systems biology visualization. We briefly comment on many visualization and analysis tools and the purposes that they serve. We focus on the latest libraries and programming languages that enable more effective, efficient and faster approaches for visualizing biological concepts, and also comment on the future human-computer interaction trends that would enable for enhancing visualization further

On-premise containerized, light-weight software solutions for Biomedicine

Bioinformatics software systems are critical tools for analysing large-scale biological data, but their design and implementation can be challenging due to the need for reliability, scalability, and performance. This thesis investigates the impact of several software approaches on the design and implementation of bioinformatics software systems. These approaches include software patterns, microservices, distributed computing, containerisation and container orchestration. The research focuses on understanding how these techniques affect bioinformatics software systems’ reliability, scalability, performance, and efficiency. Furthermore, this research highlights the challenges and considerations involved in their implementation. This study also examines potential solutions for implementing container orchestration in bioinformatics research teams with limited resources and the challenges of using container orchestration. Additionally, the thesis considers microservices and distributed computing and how these can be optimised in the design and implementation process to enhance the productivity and performance of bioinformatics software systems. The research was conducted using a combination of software development, experimentation, and evaluation. The results show that implementing software patterns can significantly improve the code accessibility and structure of bioinformatics software systems. Specifically, microservices and containerisation also enhanced system reliability, scalability, and performance. Additionally, the study indicates that adopting advanced software engineering practices, such as model-driven design and container orchestration, can facilitate efficient and productive deployment and management of bioinformatics software systems, even for researchers with limited resources. Overall, we develop a software system integrating all our findings. Our proposed system demonstrated the ability to address challenges in bioinformatics. The thesis makes several key contributions in addressing the research questions surrounding the design, implementation, and optimisation of bioinformatics software systems using software patterns, microservices, containerisation, and advanced software engineering principles and practices. Our findings suggest that incorporating these technologies can significantly improve bioinformatics software systems’ reliability, scalability, performance, efficiency, and productivity.Bioinformatische Software-Systeme stellen bedeutende Werkzeuge für die Analyse umfangreicher biologischer Daten dar. Ihre Entwicklung und Implementierung kann jedoch aufgrund der erforderlichen Zuverlässigkeit, Skalierbarkeit und Leistungsfähigkeit eine Herausforderung darstellen. Das Ziel dieser Arbeit ist es, die Auswirkungen von Software-Mustern, Microservices, verteilten Systemen, Containerisierung und Container-Orchestrierung auf die Architektur und Implementierung von bioinformatischen Software-Systemen zu untersuchen. Die Forschung konzentriert sich darauf, zu verstehen, wie sich diese Techniken auf die Zuverlässigkeit, Skalierbarkeit, Leistungsfähigkeit und Effizienz von bioinformatischen Software-Systemen auswirken und welche Herausforderungen mit ihrer Konzeptualisierungen und Implementierung verbunden sind. Diese Arbeit untersucht auch potenzielle Lösungen zur Implementierung von Container-Orchestrierung in bioinformatischen Forschungsteams mit begrenzten Ressourcen und die Einschränkungen bei deren Verwendung in diesem Kontext. Des Weiteren werden die Schlüsselfaktoren, die den Erfolg von bioinformatischen Software-Systemen mit Containerisierung, Microservices und verteiltem Computing beeinflussen, untersucht und wie diese im Design- und Implementierungsprozess optimiert werden können, um die Produktivität und Leistung bioinformatischer Software-Systeme zu steigern. Die vorliegende Arbeit wurde mittels einer Kombination aus Software-Entwicklung, Experimenten und Evaluation durchgeführt. Die erzielten Ergebnisse zeigen, dass die Implementierung von Software-Mustern, die Zuverlässigkeit und Skalierbarkeit von bioinformatischen Software-Systemen erheblich verbessern kann. Der Einsatz von Microservices und Containerisierung trug ebenfalls zur Steigerung der Zuverlässigkeit, Skalierbarkeit und Leistungsfähigkeit des Systems bei. Darüber hinaus legt die Arbeit dar, dass die Anwendung von SoftwareEngineering-Praktiken, wie modellgesteuertem Design und Container-Orchestrierung, die effiziente und produktive Bereitstellung und Verwaltung von bioinformatischen Software-Systemen erleichtern kann. Zudem löst die Implementierung dieses SoftwareSystems, Herausforderungen für Forschungsgruppen mit begrenzten Ressourcen. Insgesamt hat das System gezeigt, dass es in der Lage ist, Herausforderungen im Bereich der Bioinformatik zu bewältigen und stellt somit ein wertvolles Werkzeug für Forscher in diesem Bereich dar. Die vorliegende Arbeit leistet mehrere wichtige Beiträge zur Beantwortung von Forschungsfragen im Zusammenhang mit dem Entwurf, der Implementierung und der Optimierung von Software-Systemen für die Bioinformatik unter Verwendung von Prinzipien und Praktiken der Softwaretechnik. Unsere Ergebnisse deuten darauf hin, dass die Einbindung dieser Technologien die Zuverlässigkeit, Skalierbarkeit, Leistungsfähigkeit, Effizienz und Produktivität bioinformatischer Software-Systeme erheblich verbessern kann

Big data architecture for pervasive healthcare: a literature review

Pervasive healthcare aims to deliver deinstitutionalised healthcare services to patients anytime and anywhere. Pervasive healthcare involves remote data collection through mobile devices and sensor network which the data is usually in large volume, varied formats and high frequency. The nature of big data such as volume, variety, velocity and veracity, together with its analytical capabilities com-plements the delivery of pervasive healthcare. However, there is limited research in intertwining these two domains. Most research focus mainly on the technical context of big data application in the healthcare sector. Little attention has been paid to a strategic role of big data which impacts the quality of healthcare services provision at the organisational level. Therefore, this paper delivers a conceptual view of big data architecture for pervasive healthcare via an intensive literature review to address the aforementioned research problems. This paper provides three major contributions: 1) identifies the research themes of big data and pervasive healthcare, 2) establishes the relationship between research themes, which later composes the big data architecture for pervasive healthcare, and 3) sheds a light on future research, such as semiosis and sense-making, and enables practitioners to implement big data in the pervasive healthcare through the proposed architecture

High-performance integrated virtual environment (HIVE) tools and applications for big data analysis

The High-performance Integrated Virtual Environment (HIVE) is a high-throughput cloud-based infrastructure developed for the storage and analysis of genomic and associated biological data. HIVE consists of a web-accessible interface for authorized users to deposit, retrieve, share, annotate, compute and visualize Next-generation Sequencing (NGS) data in a scalable and highly efficient fashion. The platform contains a distributed storage library and a distributed computational powerhouse linked seamlessly. Resources available through the interface include algorithms, tools and applications developed exclusively for the HIVE platform, as well as commonly used external tools adapted to operate within the parallel architecture of the system. HIVE is composed of a flexible infrastructure, which allows for simple implementation of new algorithms and tools. Currently, available HIVE tools include sequence alignment and nucleotide variation profiling tools, metagenomic analyzers, phylogenetic tree-building tools using NGS data, clone discovery algorithms, and recombination analysis algorithms. In addition to tools, HIVE also provides knowledgebases that can be used in conjunction with the tools for NGS sequence and metadata analysis

The Computational Diet: A Review of Computational Methods Across Diet, Microbiome, and Health.

Food and human health are inextricably linked. As such, revolutionary impacts on health have been derived from advances in the production and distribution of food relating to food safety and fortification with micronutrients. During the past two decades, it has become apparent that the human microbiome has the potential to modulate health, including in ways that may be related to diet and the composition of specific foods. Despite the excitement and potential surrounding this area, the complexity of the gut microbiome, the chemical composition of food, and their interplay in situ remains a daunting task to fully understand. However, recent advances in high-throughput sequencing, metabolomics profiling, compositional analysis of food, and the emergence of electronic health records provide new sources of data that can contribute to addressing this challenge. Computational science will play an essential role in this effort as it will provide the foundation to integrate these data layers and derive insights capable of revealing and understanding the complex interactions between diet, gut microbiome, and health. Here, we review the current knowledge on diet-health-gut microbiota, relevant data sources, bioinformatics tools, machine learning capabilities, as well as the intellectual property and legislative regulatory landscape. We provide guidance on employing machine learning and data analytics, identify gaps in current methods, and describe new scenarios to be unlocked in the next few years in the context of current knowledge

Cloud-based genomics pipelines for ophthalmology: Reviewed from research to clinical practice

Aim: To familiarize clinicians with clinical genomics, and to describe the potential of cloud computing for enabling the future routine use of genomics in eye hospital settings. Design: Review article exploring the potential for cloud-based genomic pipelines in eye hospitals. Methods: Narrative review of the literature relevant to clinical genomics and cloud computing, using PubMed and Google Scholar. A broad overview of these fields is provided, followed by key examples of their integration. Results: Cloud computing could benefit clinical genomics due to scalability of resources, potentially lower costs, and ease of data sharing between multiple institutions. Challenges include complex pricing of services, costs from mistakes or experimentation, data security, and privacy concerns. Conclusions and future perspectives: Clinical genomics is likely to become more routinely used in clinical practice. Currently this is delivered in highly specialist centers. In the future, cloud computing could enable delivery of clinical genomics services in non-specialist hospital settings, in a fast, cost-effective way, whilst enhancing collaboration between clinical and research teams

National Center for Genome Analysis Program Year 3 Report – September 15, 2013 – September 14, 2014

On September 15, 2011, Indiana University (IU) received three years of support to establish the National Center for Genome Analysis Support (NCGAS). This technical report describes the activities of the third 12 months of NCGASThe facilities supported by the Research Technologies division at Indiana University are supported by a number of grants. The authors would like to acknowledge that although the National Center for Genome Analysis Support is funded by NSF 1062432, our work would not be possible without the generous support of the following awards received by our parent organization, the Pervasive Technology Institute at Indiana University. • The Indiana University Pervasive Technology Institute was supported in part by two grants from the Lilly Endowment, Inc. • NCGAS has also been supported directly by the Indiana METACyt Initiative. The Indiana METACyt Initiative of Indiana University is supported in part by the Lilly Endowment, Inc. • This material is based in part upon work supported by the National Science Foundation under Grant No. CNS-0521433. Any opinions, findings and conclusions or recommendations expressed in this material are those of the authors and do not necessarily reflect the views of the National Science Foundation (NSF)