Ontology driven integration platform for clinical and translational research

Semantic Web technologies offer a promising framework for integration of disparate biomedical data. In this paper we present the semantic information integration platform under development at the Center for Clinical and Translational Sciences (CCTS) at the University of Texas Health Science Center at Houston (UTHSC-H) as part of our Clinical and Translational Science Award (CTSA) program. We utilize the Semantic Web technologies not only for integrating, repurposing and classification of multi-source clinical data, but also to construct a distributed environment for information sharing, and collaboration online. Service Oriented Architecture (SOA) is used to modularize and distribute reusable services in a dynamic and distributed environment. Components of the semantic solution and its overall architecture are described

Dynamic Generation of a Table of Contents with Consumer-Friendly Labels

Consumers increasingly look to the Internet for health information, but available resources are too difficult for the majority to understand. Interactive tables of contents (TOC) can help consumers access health information by providing an easy to understand structure. Using natural language processing and the Unified Medical Language System (UMLS), we have automatically generated TOCs for consumer health information. The TOC are categorized according to consumer-friendly labels for the UMLS semantic types and semantic groups. Categorizing phrases by semantic types is significantly more correct and relevant. Greater correctness and relevance was achieved with documents that are difficult to read than with those at an easier reading level. Pruning TOCs to use categories that consumers favor further increases relevancy and correctness while reducing structural complexity

Linked Data based Health Information Representation, Visualization and Retrieval System on the Semantic Web

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.To better facilitate health information dissemination, using flexible ways to represent, query and visualize health data becomes increasingly important. Semantic Web technologies, which provide a common framework by allowing data to be shared and reused between applications, can be applied to the management of health data. Linked open data - a new semantic web standard to publish and link heterogonous data- allows not only human, but also machine to brows data in unlimited way. Through a use case of world health organization HIV data of sub Saharan Africa - which is severely affected by HIV epidemic, this thesis built a linked data based health information representation, querying and visualization system. All the data was represented with RDF, by interlinking it with other related datasets, which are already on the cloud. Over all, the system have more than 21,000 triples with a SPARQL endpoint; where users can download and use the data and – a SPARQL query interface where users can put different type of query and retrieve the result. Additionally, It has also a visualization interface where users can visualize the SPARQL result with a tool of their preference. For users who are not familiar with SPARQL queries, they can use the linked data search engine interface to search and browse the data. From this system we can depict that current linked open data technologies have a big potential to represent heterogonous health data in a flexible and reusable manner and they can serve in intelligent queries, which can support decision-making. However, in order to get the best from these technologies, improvements are needed both at the level of triple stores performance and domain-specific ontological vocabularies

Disease Ontology: a backbone for disease semantic integration

The Disease Ontology (DO) database (http://disease-ontology.org) represents a comprehensive knowledge base of 8043 inherited, developmental and acquired human diseases (DO version 3, revision 2510). The DO web browser has been designed for speed, efficiency and robustness through the use of a graph database. Full-text contextual searching functionality using Lucene allows the querying of name, synonym, definition, DOID and cross-reference (xrefs) with complex Boolean search strings. The DO semantically integrates disease and medical vocabularies through extensive cross mapping and integration of MeSH, ICD, NCI's thesaurus, SNOMED CT and OMIM disease-specific terms and identifiers. The DO is utilized for disease annotation by major biomedical databases (e.g. Array Express, NIF, IEDB), as a standard representation of human disease in biomedical ontologies (e.g. IDO, Cell line ontology, NIFSTD ontology, Experimental Factor Ontology, Influenza Ontology), and as an ontological cross mappings resource between DO, MeSH and OMIM (e.g. GeneWiki). The DO project (http://diseaseontology.sf.net) has been incorporated into open source tools (e.g. Gene Answers, FunDO) to connect gene and disease biomedical data through the lens of human disease. The next iteration of the DO web browser will integrate DO's extended relations and logical definition representation along with these biomedical resource cross-mappings

Infectious Disease Ontology

Technological developments have resulted in tremendous increases in the volume and diversity of the data and information that must be processed in the course of biomedical and clinical research and practice. Researchers are at the same time under ever greater pressure to share data and to take steps to ensure that data resources are interoperable. The use of ontologies to annotate data has proven successful in supporting these goals and in providing new possibilities for the automated processing of data and information. In this chapter, we describe different types of vocabulary resources and emphasize those features of formal ontologies that make them most useful for computational applications. We describe current uses of ontologies and discuss future goals for ontology-based computing, focusing on its use in the field of infectious diseases. We review the largest and most widely used vocabulary resources relevant to the study of infectious diseases and conclude with a description of the Infectious Disease Ontology (IDO) suite of interoperable ontology modules that together cover the entire infectious disease domain

Enriching and designing metaschemas for the UMLS semantic network

The disparate terminologies used by various biomedical applications or professionals make the communication between them more difficult. The Unified Medical Language System (UMLS) of the National Library of Medicine (NLM) is an attempt to integrate different medical terminologies into a unified representation framework to improve decision making and the quality of patient care as well as research in the health-care field. Metathesaurus (META) and Semantic Network (SN) are two main components of the UMLS system, where the SN provides a high-level abstract of the concepts in the META. This dissertation addresses three problems of the SN. First, the SN\u27s two-tree structure is restrictive because it does not allow a semantic type to be a specialization of several other semantic types. This restriction leads to the omission of some subsumption knowledge in the SN. Secondly, the SN is large and complex for comprehension purposes and it does not come with a pictorial representation for users. As a partial solution for this problem, several metaschemas were previously built as higher-level abstractions for the SN to help users\u27 orientation. Third, there is no efficient method to evaluate each metaschema. There is no technique to obtain a consolidated metaschema acceptable for a majority of the UMLS\u27s users. In this dissertation work the author attacked the described problems by using the following approaches. (1) The SN was expanded into the Enriched Semantic Network (ESN), a multiple subsumption structure with a directed acyclic graph (DAG) IS-A hierarchy, allowing a semantic type to have multiple parents. New viable IS-A links were added as warranted. Two methodologies were presented to identify and add new viable IS-A links. The ESN serves as an extended high-level abstract of the META. (2) The ESN\u27s semantic relationship distribution and concept configuration were studied. Rules were defined to derive the ESN\u27s semantic relationship distribution from the current SN\u27s semantic relationship distribution. A mapping function was defined to map the SN\u27s concept configuration to the ESN\u27s concept configuration, avoiding redundant classifications in the ESN\u27s concept configuration. (3) Several new metaschemas for the SN and the ESN were built and evaluated based on several different partitioning techniques. Each of these metaschema can serve as a higher-level abstraction of the SN (or the ESN)

Abstraction, extension and structural auditing with the UMLS semantic network

The Unified Medical Language System (UMLS) is a two-level biomedical terminological knowledge base, consisting of the Metathesaurus (META) and the Semantic Network (SN), which is an upper-level ontology of broad categories called semantic types (STs). The two levels are related via assignments of one or more STs to each concept of the META. Although the SN provides a high-level abstraction for the META, it is not compact enough. Various metaschemas, which are compact higher-level abstraction networks of the SN, have been derived. A methodology is presented to evaluate and compare two given metaschemas, based on their structural properties. A consolidation algorithm is designed to yield a consolidated metaschema maintaining the best and avoiding the worst of the two given metaschemas. The methodology and consolidation algorithm were applied to the pair of heuristic metaschemas, the top-down metaschema and the bottom-up metaschema, which have been derived from two studies involving two groups of UMLS experts. The results show that the consolidated metaschema has better structural properties than either of the two input metaschemas. Better structural properties are expected to lead to better utilization of a metaschema in orientation and visualization of the SN. Repetitive consolidation, which leads to further structural improvements, is also shown. The META and SN were created in the absence of a comprehensive curated genomics terminology. The internal consistency of the SN\u27s categories which are relevant to genomics is evaluated and changes to improve its ability to express genomic knowledge are proposed. The completeness of the SN with respect to genomic concepts is evaluated and conesponding extensions to the SN to fill identified gaps are proposed. Due to the size and complexity of the UMLS, errors are inevitable. A group auditing methodolgy is presented, where the ST assignments for groups of similar concepts are audited. The extent of an ST, which is the group of all concepts assigned this ST, is divided into groups of concepts that have been assigned exactly the same set of STs. An algorithm finds subgroups of suspicious concepts. The auditor is presented with these subgroups, which purportedly exhibit the same semantics, and thus he will notice different concepts with wrong or missing ST assignments. Another methodology partitions these groups into smaller, singly rooted, hierarchically organized sets used to audit the hierarchical relationships. The algorithmic methodologies are compared with a comprehensive manual audit and show a very high error recall with a much higher precision than the manual exhaustive review

Using data-driven sublanguage pattern mining to induce knowledge models: application in medical image reports knowledge representation

Background: The use of knowledge models facilitates information retrieval, knowledge base development, and therefore supports new knowledge discovery that ultimately enables decision support applications. Most existing works have employed machine learning techniques to construct a knowledge base. However, they often suffer from low precision in extracting entity and relationships. In this paper, we described a data-driven sublanguage pattern mining method that can be used to create a knowledge model. We combined natural language processing (NLP) and semantic network analysis in our model generation pipeline. Methods: As a use case of our pipeline, we utilized data from an open source imaging case repository, Radiopaedia.org, to generate a knowledge model that represents the contents of medical imaging reports. We extracted entities and relationships using the Stanford part-of-speech parser and the “Subject:Relationship:Object” syntactic data schema. The identified noun phrases were tagged with the Unified Medical Language System (UMLS) semantic types. An evaluation was done on a dataset comprised of 83 image notes from four data sources. Results: A semantic type network was built based on the co-occurrence of 135 UMLS semantic types in 23,410 medical image reports. By regrouping the semantic types and generalizing the semantic network, we created a knowledge model that contains 14 semantic categories. Our knowledge model was able to cover 98% of the content in the evaluation corpus and revealed 97% of the relationships. Machine annotation achieved a precision of 87%, recall of 79%, and F-score of 82%. Conclusion: The results indicated that our pipeline was able to produce a comprehensive content-based knowledge model that could represent context from various sources in the same domain

Linking social media, medical literature, and clinical notes using deep learning.

Researchers analyze data, information, and knowledge through many sources, formats, and methods. The dominant data format includes text and images. In the healthcare industry, professionals generate a large quantity of unstructured data. The complexity of this data and the lack of computational power causes delays in analysis. However, with emerging deep learning algorithms and access to computational powers such as graphics processing unit (GPU) and tensor processing units (TPUs), processing text and images is becoming more accessible. Deep learning algorithms achieve remarkable results in natural language processing (NLP) and computer vision. In this study, we focus on NLP in the healthcare industry and collect data not only from electronic medical records (EMRs) but also medical literature and social media. We propose a framework for linking social media, medical literature, and EMRs clinical notes using deep learning algorithms. Connecting data sources requires defining a link between them, and our key is finding concepts in the medical text. The National Library of Medicine (NLM) introduces a Unified Medical Language System (UMLS) and we use this system as the foundation of our own system. We recognize social media’s dynamic nature and apply supervised and semi-supervised methodologies to generate concepts. Named entity recognition (NER) allows efficient extraction of information, or entities, from medical literature, and we extend the model to process the EMRs’ clinical notes via transfer learning. The results include an integrated, end-to-end, web-based system solution that unifies social media, literature, and clinical notes, and improves access to medical knowledge for the public and experts