From Cues to Nudge: A Knowledge-Based Framework for Surveillance of Healthcare-Associated Infections.

We propose an integrated semantic web framework consisting of formal ontologies, web services, a reasoner and a rule engine that together recommend appropriate level of patient-care based on the defined semantic rules and guidelines. The classification of healthcare-associated infections within the HAIKU (Hospital Acquired Infections - Knowledge in Use) framework enables hospitals to consistently follow the standards along with their routine clinical practice and diagnosis coding to improve quality of care and patient safety. The HAI ontology (HAIO) groups over thousands of codes into a consistent hierarchy of concepts, along with relationships and axioms to capture knowledge on hospital-associated infections and complications with focus on the big four types, surgical site infections (SSIs), catheter-associated urinary tract infection (CAUTI); hospital-acquired pneumonia, and blood stream infection. By employing statistical inferencing in our study we use a set of heuristics to define the rule axioms to improve the SSI case detection. We also demonstrate how the occurrence of an SSI is identified using semantic e-triggers. The e-triggers will be used to improve our risk assessment of post-operative surgical site infections (SSIs) for patients undergoing certain type of surgeries (e.g., coronary artery bypass graft surgery (CABG)).

Benchmarking infrastructure for mutation text mining.

BACKGROUND: Experimental research on the automatic extraction of information about mutations from texts is greatly hindered by the lack of consensus evaluation infrastructure for the testing and benchmarking of mutation text mining systems. RESULTS: We propose a community-oriented annotation and benchmarking infrastructure to support development, testing, benchmarking, and comparison of mutation text mining systems. The design is based on semantic standards, where RDF is used to represent annotations, an OWL ontology provides an extensible schema for the data and SPARQL is used to compute various performance metrics, so that in many cases no programming is needed to analyze results from a text mining system. While large benchmark corpora for biological entity and relation extraction are focused mostly on genes, proteins, diseases, and species, our benchmarking infrastructure fills the gap for mutation information. The core infrastructure comprises (1) an ontology for modelling annotations, (2) SPARQL queries for computing performance metrics, and (3) a sizeable collection of manually curated documents, that can support mutation grounding and mutation impact extraction experiments. CONCLUSION: We have developed the principal infrastructure for the benchmarking of mutation text mining tasks. The use of RDF and OWL as the representation for corpora ensures extensibility. The infrastructure is suitable for out-of-the-box use in several important scenarios and is ready, in its current state, for initial community adoption.

Semantic querying of relational data for clinical intelligence: a semantic web services-based approach.

BACKGROUND: Clinical Intelligence, as a research and engineering discipline, is dedicated to the development of tools for data analysis for the purposes of clinical research, surveillance, and effective health care management. Self-service ad hoc querying of clinical data is one desirable type of functionality. Since most of the data are currently stored in relational or similar form, ad hoc querying is problematic as it requires specialised technical skills and the knowledge of particular data schemas. RESULTS: A possible solution is semantic querying where the user formulates queries in terms of domain ontologies that are much easier to navigate and comprehend than data schemas. In this article, we are exploring the possibility of using SADI Semantic Web services for semantic querying of clinical data. We have developed a prototype of a semantic querying infrastructure for the surveillance of, and research on, hospital-acquired infections. CONCLUSIONS: Our results suggest that SADI can support ad-hoc, self-service, semantic queries of relational data in a Clinical Intelligence context. The use of SADI compares favourably with approaches based on declarative semantic mappings from data schemas to ontologies, such as query rewriting and RDFizing by materialisation, because it can easily cope with situations when (i) some computation is required to turn relational data into RDF or OWL, e.g., to implement temporal reasoning, or (ii) integration with external data sources is necessary.

HAIKU: A Semantic Framework for Surveillance of Healthcare-Associated Infections.

Healthcare-Associated Infections (HAI) impose a substantial health and financial burden. Surveillance for HAI is essential to develop and evaluate prevention and control efforts. The traditional approaches to HAI surveillance are often limited in scope and efficiency by the need to manually obtain and integrate data from disparate paper charts and information systems. The considerable effort required for discovery and integration of relevant data from multiple sources limits the current effectiveness of HAI surveillance. Knowledge-based systems can address this problem of contextualizing data to support integration and reasoning. In order to facilitate knowledge-based decision making in this area, availability of a reference vocabulary is crucial. The existing terminologies in this domain still suffer from inconsistencies and confusion in different medical/clinical practices, and there is a need for their further improvement and clarification. To develop a common understanding of the infection control domain and to achieve data interoperability in the area of hospital-acquired infections, we present the HAI Ontology (HAIO) to improve knowledge processing in pervasive healthcare environments, as part of the HAIKU (Hospital Acquired Infections - Knowledge in Use) system. The HAIKU framework assists physicians and infection control practitioners by providing recommendations regarding case detection, risk stratification and identification of diagnostic factors.

Deploying mutation impact text-mining software with the SADI Semantic Web Services framework.

BACKGROUND: Mutation impact extraction is an important task designed to harvest relevant annotations from scientific documents for reuse in multiple contexts. Our previous work on text mining for mutation impacts resulted in (i) the development of a GATE-based pipeline that mines texts for information about impacts of mutations on proteins, (ii) the population of this information into our OWL DL mutation impact ontology, and (iii) establishing an experimental semantic database for storing the results of text mining. RESULTS: This article explores the possibility of using the SADI framework as a medium for publishing our mutation impact software and data. SADI is a set of conventions for creating web services with semantic descriptions that facilitate automatic discovery and orchestration. We describe a case study exploring and demonstrating the utility of the SADI approach in our context. We describe several SADI services we created based on our text mining API and data, and demonstrate how they can be used in a number of biologically meaningful scenarios through a SPARQL interface (SHARE) to SADI services. In all cases we pay special attention to the integration of mutation impact services with external SADI services providing information about related biological entities, such as proteins, pathways, and drugs. CONCLUSION: We have identified that SADI provides an effective way of exposing our mutation impact data such that it can be leveraged by a variety of stakeholders in multiple use cases. The solutions we provide for our use cases can serve as examples to potential SADI adopters trying to solve similar integration problems.

Knowledge-based surveillance for preventing postoperative surgical site infection.

At least one out of every twenty people admitted to a Canadian hospital will acquire an infection. These hospital-acquired infections (HAIs) take a profound individual and system-wide toll, resulting in thousands of deaths and hundreds of millions of dollars in additional expenses each year. Surveillance for HAIs is essential to develop and evaluate prevention and control efforts. In nearly all healthcare institutions, however, surveillance for HAIs is a manual process, requiring highly trained infection control practitioners to consult multiple information systems and paper charts. The amount of effort required for discovery and integration of relevant data from multiple sources limits the current effectiveness of HAIs surveillance. In this research, we apply knowledge modeling and semantic technologies to facilitate the integration of disparate data and enable automatic reasoning with these integrated data to identify events of clinical interest. In this paper, we focus on Surgical Site Infections (SSIs), which account for a relatively large fraction of all hospital acquired infections.

Prototype semantic infrastructure for automated small molecule classification and annotation in lipidomics.

BACKGROUND: The development of high-throughput experimentation has led to astronomical growth in biologically relevant lipids and lipid derivatives identified, screened, and deposited in numerous online databases. Unfortunately, efforts to annotate, classify, and analyze these chemical entities have largely remained in the hands of human curators using manual or semi-automated protocols, leaving many novel entities unclassified. Since chemical function is often closely linked to structure, accurate structure-based classification and annotation of chemical entities is imperative to understanding their functionality. RESULTS: As part of an exploratory study, we have investigated the utility of semantic web technologies in automated chemical classification and annotation of lipids. Our prototype framework consists of two components: an ontology and a set of federated web services that operate upon it. The formal lipid ontology we use here extends a part of the LiPrO ontology and draws on the lipid hierarchy in the LIPID MAPS database, as well as literature-derived knowledge. The federated semantic web services that operate upon this ontology are deployed within the Semantic Annotation, Discovery, and Integration (SADI) framework. Structure-based lipid classification is enacted by two core services. Firstly, a structural annotation service detects and enumerates relevant functional groups for a specified chemical structure. A second service reasons over lipid ontology class descriptions using the attributes obtained from the annotation service and identifies the appropriate lipid classification. We extend the utility of these core services by combining them with additional SADI services that retrieve associations between lipids and proteins and identify publications related to specified lipid types. We analyze the performance of SADI-enabled eicosanoid classification relative to the LIPID MAPS classification and reflect on the contribution of our integrative methodology in the context of high-throughput lipidomics. CONCLUSIONS: Our prototype framework is capable of accurate automated classification of lipids and facile integration of lipid class information with additional data obtained with SADI web services. The potential of programming-free integration of external web services through the SADI framework offers an opportunity for development of powerful novel applications in lipidomics. We conclude that semantic web technologies can provide an accurate and versatile means of classification and annotation of lipids.

Algorithms and semantic infrastructure for mutation impact extraction and grounding.

BACKGROUND: Mutation impact extraction is a hitherto unaccomplished task in state of the art mutation extraction systems. Protein mutations and their impacts on protein properties are hidden in scientific literature, making them poorly accessible for protein engineers and inaccessible for phenotype-prediction systems that currently depend on manually curated genomic variation databases. RESULTS: We present the first rule-based approach for the extraction of mutation impacts on protein properties, categorizing their directionality as positive, negative or neutral. Furthermore protein and mutation mentions are grounded to their respective UniProtKB IDs and selected protein properties, namely protein functions to concepts found in the Gene Ontology. The extracted entities are populated to an OWL-DL Mutation Impact ontology facilitating complex querying for mutation impacts using SPARQL. We illustrate retrieval of proteins and mutant sequences for a given direction of impact on specific protein properties. Moreover we provide programmatic access to the data through semantic web services using the SADI (Semantic Automated Discovery and Integration) framework. CONCLUSION: We address the problem of access to legacy mutation data in unstructured form through the creation of novel mutation impact extraction methods which are evaluated on a corpus of full-text articles on haloalkane dehalogenases, tagged by domain experts. Our approaches show state of the art levels of precision and recall for Mutation Grounding and respectable level of precision but lower recall for the task of Mutant-Impact relation extraction. The system is deployed using text mining and semantic web technologies with the goal of publishing to a broad spectrum of consumers.