Ontology-based knowledge representation of experiment metadata in biological data mining

According to the PubMed resource from the U.S. National Library of Medicine, over 750,000 scientific articles have been published in the ~5000 biomedical journals worldwide in the year 2007 alone. The vast majority of these publications include results from hypothesis-driven experimentation in overlapping biomedical research domains. Unfortunately, the sheer volume of information being generated by the biomedical research enterprise has made it virtually impossible for investigators to stay aware of the latest findings in their domain of interest, let alone to be able to assimilate and mine data from related investigations for purposes of meta-analysis. While computers have the potential for assisting investigators in the extraction, management and analysis of these data, information contained in the traditional journal publication is still largely unstructured, free-text descriptions of study design, experimental application and results interpretation, making it difficult for computers to gain access to the content of what is being conveyed without significant manual intervention. In order to circumvent these roadblocks and make the most of the output from the biomedical research enterprise, a variety of related standards in knowledge representation are being developed, proposed and adopted in the biomedical community. In this chapter, we will explore the current status of efforts to develop minimum information standards for the representation of a biomedical experiment, ontologies composed of shared vocabularies assembled into subsumption hierarchical structures, and extensible relational data models that link the information components together in a machine-readable and human-useable framework for data mining purposes

Introducing realist ontology for the representation of adverse events

The goal of the REMINE project is to build a high performance prediction, detection and monitoring platform for managing Risks against Patient Safety (RAPS). Part of the work involves developing in ontology enabling computer-assisted RAPS decision support on the basis of the disease history of a patient as documented in a hospital information system. A requirement of the ontology is to contain a representation for what is commonly referred to by the term 'adverse event', one challenge being that distinct authoritative sources define this term in different and context-dependent ways. The presence of some common ground in all definitions is, however, obvious. Using the analytical principles underlying Basic Formal Ontology and Referent Tracking, both developed in the tradition of philosophical realism, we propose a formal representation of this common ground which combines a reference ontology consisting exclusively of representations of universals and an application ontology which consists representations of defined classes. We argue that what in most cases is referred to by means of the term 'adverse event' - when used generically - is a defined class rather than a universal. In favour of the conception of adverse events as forming a defined class are the arguments that (1) there is no definition for 'adverse event' that carves out a collection of particulars which constitutes the extension of a universal, and (2) the majority of definitions require adverse events to be (variably) the result of some observation, assessment or (absence of) expectation, thereby giving these entities a nominal or epistemological flavour

Constructing Ontology-Based Cancer Treatment Decision Support System with Case-Based Reasoning

Decision support is a probabilistic and quantitative method designed for modeling problems in situations with ambiguity. Computer technology can be employed to provide clinical decision support and treatment recommendations. The problem of natural language applications is that they lack formality and the interpretation is not consistent. Conversely, ontologies can capture the intended meaning and specify modeling primitives. Disease Ontology (DO) that pertains to cancer's clinical stages and their corresponding information components is utilized to improve the reasoning ability of a decision support system (DSS). The proposed DSS uses Case-Based Reasoning (CBR) to consider disease manifestations and provides physicians with treatment solutions from similar previous cases for reference. The proposed DSS supports natural language processing (NLP) queries. The DSS obtained 84.63% accuracy in disease classification with the help of the ontology

Conceptual graph-based knowledge representation for supporting reasoning in African traditional medicine

Although African patients use both conventional or modern and traditional healthcare simultaneously, it has been proven that 80% of people rely on African traditional medicine (ATM). ATM includes medical activities stemming from practices, customs and traditions which were integral to the distinctive African cultures. It is based mainly on the oral transfer of knowledge, with the risk of losing critical knowledge. Moreover, practices differ according to the regions and the availability of medicinal plants. Therefore, it is necessary to compile tacit, disseminated and complex knowledge from various Tradi-Practitioners (TP) in order to determine interesting patterns for treating a given disease. Knowledge engineering methods for traditional medicine are useful to model suitably complex information needs, formalize knowledge of domain experts and highlight the effective practices for their integration to conventional medicine. The work described in this paper presents an approach which addresses two issues. First it aims at proposing a formal representation model of ATM knowledge and practices to facilitate their sharing and reusing. Then, it aims at providing a visual reasoning mechanism for selecting best available procedures and medicinal plants to treat diseases. The approach is based on the use of the Delphi method for capturing knowledge from various experts which necessitate reaching a consensus. Conceptual graph formalism is used to model ATM knowledge with visual reasoning capabilities and processes. The nested conceptual graphs are used to visually express the semantic meaning of Computational Tree Logic (CTL) constructs that are useful for formal specification of temporal properties of ATM domain knowledge. Our approach presents the advantage of mitigating knowledge loss with conceptual development assistance to improve the quality of ATM care (medical diagnosis and therapeutics), but also patient safety (drug monitoring)

Integrating biomedical research and electronic health records to create knowledge-based biologically meaningful machine-readable embeddings.

In order to advance precision medicine, detailed clinical features ought to be described in a way that leverages current knowledge. Although data collected from biomedical research is expanding at an almost exponential rate, our ability to transform that information into patient care has not kept at pace. A major barrier preventing this transformation is that multi-dimensional data collection and analysis is usually carried out without much understanding of the underlying knowledge structure. Here, in an effort to bridge this gap, Electronic Health Records (EHRs) of individual patients are connected to a heterogeneous knowledge network called Scalable Precision Medicine Oriented Knowledge Engine (SPOKE). Then an unsupervised machine-learning algorithm creates Propagated SPOKE Entry Vectors (PSEVs) that encode the importance of each SPOKE node for any code in the EHRs. We argue that these results, alongside the natural integration of PSEVs into any EHR machine-learning platform, provide a key step toward precision medicine

Semantic security: specification and enforcement of semantic policies for security-driven collaborations

Collaborative research can often have demands on finer-grained security that go beyond the authentication-only paradigm as typified by many e-Infrastructure/Grid based solutions. Supporting finer-grained access control is often essential for domains where the specification and subsequent enforcement of authorization policies is needed. The clinical domain is one area in particular where this is so. However it is the case that existing security authorization solutions are fragile, inflexible and difficult to establish and maintain. As a result they often do not meet the needs of real world collaborations where robustness and flexibility of policy specification and enforcement, and ease of maintenance are essential. In this paper we present results of the JISC funded Advanced Grid Authorisation through Semantic Technologies (AGAST) project (www.nesc.ac.uk/hub/projects/agast) and show how semantic-based approaches to security policy specification and enforcement can address many of the limitations with existing security solutions. These are demonstrated into the clinical trials domain through the MRC funded Virtual Organisations for Trials and Epidemiological Studies (VOTES) project (www.nesc.ac.uk/hub/projects/votes) and the epidemiological domain through the JISC funded SeeGEO project (www.nesc.ac.uk/hub/projects/seegeo)

Toward a Standardized Strategy of Clinical Metabolomics for the Advancement of Precision Medicine

Despite the tremendous success, pitfalls have been observed in every step of a clinical metabolomics workflow, which impedes the internal validity of the study. Furthermore, the demand for logistics, instrumentations, and computational resources for metabolic phenotyping studies has far exceeded our expectations. In this conceptual review, we will cover inclusive barriers of a metabolomics-based clinical study and suggest potential solutions in the hope of enhancing study robustness, usability, and transferability. The importance of quality assurance and quality control procedures is discussed, followed by a practical rule containing five phases, including two additional "pre-pre-" and "post-post-" analytical steps. Besides, we will elucidate the potential involvement of machine learning and demonstrate that the need for automated data mining algorithms to improve the quality of future research is undeniable. Consequently, we propose a comprehensive metabolomics framework, along with an appropriate checklist refined from current guidelines and our previously published assessment, in the attempt to accurately translate achievements in metabolomics into clinical and epidemiological research. Furthermore, the integration of multifaceted multi-omics approaches with metabolomics as the pillar member is in urgent need. When combining with other social or nutritional factors, we can gather complete omics profiles for a particular disease. Our discussion reflects the current obstacles and potential solutions toward the progressing trend of utilizing metabolomics in clinical research to create the next-generation healthcare system.11Ysciescopu

Natural Language Query in the Biochemistry and Molecular Biology Domains Based on Cognition Search™

Motivation: With the tremendous growth in scientific literature, it is necessary to improve upon the standard pattern matching style of the available search engines. Semantic NLP may be the solution to this problem. Cognition Search (CSIR) is a natural language technology. It is best used by asking a simple question that might be answered in textual data being queried, such as MEDLINE. CSIR has a large English dictionary and semantic database. Cognition’s semantic map enables the search process to be based on meaning rather than statistical word pattern matching and, therefore, returns more complete and relevant results. The Cognition Search engine uses downward reasoning and synonymy which also improves recall. It improves precision through phrase parsing and word sense disambiguation.
Result: Here we have carried out several projects to "teach" the CSIR lexicon medical, biochemical and molecular biological language and acronyms from curated web-based free sources. Vocabulary from the Alliance for Cell Signaling (AfCS), the Human Genome Nomenclature Consortium (HGNC), the United Medical Language System (UMLS) Meta-thesaurus, and The International Union of Pure and Applied Chemistry (IUPAC) was introduced into the CSIR dictionary and curated. The resulting system was used to interpret MEDLINE abstracts. Meaning-based search of MEDLINE abstracts yields high precision (estimated at >90%), and high recall (estimated at >90%), where synonym information has been encoded. The present implementation can be found at http://MEDLINE.cognition.com. 
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