Knowledge-based Biomedical Data Science 2019

Knowledge-based biomedical data science (KBDS) involves the design and implementation of computer systems that act as if they knew about biomedicine. Such systems depend on formally represented knowledge in computer systems, often in the form of knowledge graphs. Here we survey the progress in the last year in systems that use formally represented knowledge to address data science problems in both clinical and biological domains, as well as on approaches for creating knowledge graphs. Major themes include the relationships between knowledge graphs and machine learning, the use of natural language processing, and the expansion of knowledge-based approaches to novel domains, such as Chinese Traditional Medicine and biodiversity.Comment: Manuscript 43 pages with 3 tables; Supplemental material 43 pages with 3 table

National Center for Biomedical Ontology: Advancing biomedicine through structured organization of scientific knowledge

The National Center for Biomedical Ontology is a consortium that comprises leading informaticians, biologists, clinicians, and ontologists, funded by the National Institutes of Health (NIH) Roadmap, to develop innovative technology and methods that allow scientists to record, manage, and disseminate biomedical information and knowledge in machine-processable form. The goals of the Center are (1) to help unify the divergent and isolated efforts in ontology development by promoting high quality open-source, standards-based tools to create, manage, and use ontologies, (2) to create new software tools so that scientists can use ontologies to annotate and analyze biomedical data, (3) to provide a national resource for the ongoing evaluation, integration, and evolution of biomedical ontologies and associated tools and theories in the context of driving biomedical projects (DBPs), and (4) to disseminate the tools and resources of the Center and to identify, evaluate, and communicate best practices of ontology development to the biomedical community. Through the research activities within the Center, collaborations with the DBPs, and interactions with the biomedical community, our goal is to help scientists to work more effectively in the e-science paradigm, enhancing experiment design, experiment execution, data analysis, information synthesis, hypothesis generation and testing, and understand human disease

Software Architectures and Efficient Data Sharing for Promoting Continuous Drug Re-purposing

The proposed layered and component based architectural style enables data sharing and accessibility of computational software components across problem domains in Biomedical Science. However, it also opens door to translational informatics, which bridges the gap between knowledge generated in biomedical science and clinical practices. Software applications generated from such an architectural style, are able to support continues drug repurposing. They exploit the semantic which exists, and is available across biomedical problem domains, between drug chemical compounds, their biological targets, particularly unintentional targets and drug therapeutic effects. The excerpt from the proposed software architectures has already been deployed in computationally light-weight software applications which based drug repurposing on reasoning upon collected available semantic. However a full scale implementation of the ideas of data sharing across the spectrum of biomedical research and disciplines, would require some changes in the way therapeutic drugs are discovered, tested and approved

Learning from medical data streams: an introduction

Clinical practice and research are facing a new challenge created by the rapid growth of health information science and technology, and the complexity and volume of biomedical data. Machine learning from medical data streams is a recent area of research that aims to provide better knowledge extraction and evidence-based clinical decision support in scenarios where data are produced as a continuous flow. This year's edition of AIME, the Conference on Artificial Intelligence in Medicine, enabled the sound discussion of this area of research, mainly by the inclusion of a dedicated workshop. This paper is an introduction to LEMEDS, the Learning from Medical Data Streams workshop, which highlights the contributed papers, the invited talk and expert panel discussion, as well as related papers accepted to the main conference

Enhancing GO for the sake of clinical bioinformatics

Recent work on the quality assurance of the Gene Ontology (GO, Gene Ontology Consortium 2004) from the perspective of both linguistic and ontological organization has made it clear that GO lacks the kind of formalism needed to support logic-based reasoning. At the same time it is no less clear that GO has proven itself to be an excellent terminological resource that can serve to combine together a variety of biomedical database and information systems. Given the strengths of GO, it is worth investigating whether, by overcoming some of its weaknesses from the point of view of formal-ontological principles, we might not be able to enhance a version of GO which can come even closer to serving the needs of the various communities of biomedical researchers and practitioners. It is accepted that clinical and bioinformatics need to find common ground if the results of data-intensive biomedical research are to be harvested to the full. It is also widely accepted that no single method will be sufficient to create the needed common framework. We believe that the principles-based approach to life-science data integration and knowledge representation must be one of the methods applied. Indeed in dealing with the ontological representation of carcinomas, and specifically of colon carcinomas, we have established that, had GO (and related biomedical ontologies) followed some of the basic formal-ontological principles we have identified (Smith et al. 2004, Ceusters et al. 2004), then the effort required to navigate successfully between clinical and bioinformatics systems would have been reduced. We point here to the sources of ontologically-related errors in GO, and also provide arguments as to why and how such errors need to be resolved

Biomedical Informatics Applications for Precision Management of Neurodegenerative Diseases

Modern medicine is in the midst of a revolution driven by “big data,” rapidly advancing computing power, and broader integration of technology into healthcare. Highly detailed and individualized profiles of both health and disease states are now possible, including biomarkers, genomic profiles, cognitive and behavioral phenotypes, high-frequency assessments, and medical imaging. Although these data are incredibly complex, they can potentially be used to understand multi-determinant causal relationships, elucidate modifiable factors, and ultimately customize treatments based on individual parameters. Especially for neurodegenerative diseases, where an effective therapeutic agent has yet to be discovered, there remains a critical need for an interdisciplinary perspective on data and information management due to the number of unanswered questions. Biomedical informatics is a multidisciplinary field that falls at the intersection of information technology, computer and data science, engineering, and healthcare that will be instrumental for uncovering novel insights into neurodegenerative disease research, including both causal relationships and therapeutic targets and maximizing the utility of both clinical and research data. The present study aims to provide a brief overview of biomedical informatics and how clinical data applications such as clinical decision support tools can be developed to derive new knowledge from the wealth of available data to advance clinical care and scientific research of neurodegenerative diseases in the era of precision medicine

Assessment of Biomedical and Science Librarian E-science Learner and User Needs to Develop an E-science Web Portal and Support Library and Institutional E-science Initiatives and Collaborations

Objective: To determine biomedical and science librarians\u27 need for an e-science web portal and to gather data on their user needs and Web 2.0 preferences in order to design a e-science web portal and support the development and strengthening of libraries’ e-science initiatives and collaborations. Methods: Using feedback from librarian interviews from attendees of an e-science symposium and boot-camp, we researched and developed questions to survey learner needs. We created the survey using SurveyMonkey. A small group of medical librarians then tested the survey. Based on the feedback of the testing, the survey was revised. The survey was administered to 178 health sciences librarians. After 3 weeks, 73 data sets and responses were collected and analyzed. Results and Conclusions: Preliminary results reveal a small yet significant number of diverse biomedical and science libraries actively engaged or actively pursuing e-science collaborations. These results indicate librarians have urgent needs for online scientific content and data tool tutorials to support and facilitate the exchange of e-science knowledge and experience among colleagues. In addition and important to note, the results indicate a significant need for and lack of awareness of online e-science resources. Thus, to support the e-science initiatives, biomedical and science librarians need an interactive e-science web portal designed by librarians that integrates e-science web resources and scientific content development. Additional areas for future research include identifying and examining the specific types of e-science collaborations and endeavors among biomedical and scientific institutions and their libraries and librarians and studying the future effectiveness and/or impact of the web portal and its resources and Web 2.0 tools on these collaborations and endeavors. Presented April 7, 2010, at the Second Annual University of Massachusetts and New England Area Librarian E-Science Symposium, Shrewsbury, MA

Conceptual biology, hypothesis discovery, and text mining: Swanson's legacy

Innovative biomedical librarians and information specialists who want to expand their roles as expert searchers need to know about profound changes in biology and parallel trends in text mining. In recent years, conceptual biology has emerged as a complement to empirical biology. This is partly in response to the availability of massive digital resources such as the network of databases for molecular biologists at the National Center for Biotechnology Information. Developments in text mining and hypothesis discovery systems based on the early work of Swanson, a mathematician and information scientist, are coincident with the emergence of conceptual biology. Very little has been written to introduce biomedical digital librarians to these new trends. In this paper, background for data and text mining, as well as for knowledge discovery in databases (KDD) and in text (KDT) is presented, then a brief review of Swanson's ideas, followed by a discussion of recent approaches to hypothesis discovery and testing. 'Testing' in the context of text mining involves partially automated methods for finding evidence in the literature to support hypothetical relationships. Concluding remarks follow regarding (a) the limits of current strategies for evaluation of hypothesis discovery systems and (b) the role of literature-based discovery in concert with empirical research. Report of an informatics-driven literature review for biomarkers of systemic lupus erythematosus is mentioned. Swanson's vision of the hidden value in the literature of science and, by extension, in biomedical digital databases, is still remarkably generative for information scientists, biologists, and physicians. © 2006Bekhuis; licensee BioMed Central Ltd