Electronic medical records contain multi-format electronic medical data that consist of an abundance of medical knowledge. Facing with patient's symptoms, experienced caregivers make right medical decisions based on their professional knowledge that accurately grasps relationships between symptoms, diagnosis and corresponding treatments. In this paper, we aim to capture these relationships by constructing a large and high-quality heterogenous graph linking patients, diseases, and drugs (PDD) in EMRs. Specifically, we propose a novel framework to extract important medical entities from MIMIC-III (Medical Information Mart for Intensive Care III) and automatically link them with the existing biomedical knowledge graphs, including ICD-9 ontology and DrugBank. The PDD graph presented in this paper is accessible on the Web via the SPARQL endpoint, and provides a pathway for medical discovery and applications, such as effective treatment recommendations.
In order to bring the advantages of Semantic Web to the life science community, a number of biomedical KGs have been constructed over the last years, such as Bio2RDF @cite_3 and Chem2Bio2RDF @cite_5 . These datasets make the interconnection and exploration of different biomedical data sources possible. However, there is little patients clinical information within these biomedical KGs. STRIDE2RDF @cite_6 and MCLSS2RDF @cite_8 apply Linked Data Principles to represent patientʼs electronic health records, but the interlinks from clinical data to existing biomedical KGs are still very limited. Hence, none of the existing linked datasets are bridging the gap between clinical and biomedical data.
@cite_5 @cite_6 @cite_3 @cite_8
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A significant portion of biomedical literature is represented in a manner that makes it difficult for consumers to find or aggregate content through a computational query. One approach to facilitate reuse of the scientific literature is to structure this information as linked data using standardized web technologies. In this paper we present the second version of Biotea, a semantic, linked data version of the open-access subset of PubMed Central that has been enhanced with specialized annotation pipelines that uses existing infrastructure from the National Center for Biomedical Ontology. We expose our models, services, software and datasets. Our infrastructure enables manual and semi-automatic annotation, resulting data are represented as RDF-based linked data and can be readily queried using the SPARQL query language. We illustrate the utility of our system with several use cases. Our datasets, methods and techniques are available at http: biotea.github.io. Meaningful Use guidelines have pushed the United States Healthcare System to adopt electronic health record systems (EHRs) at an unprecedented rate. Hospitals and medical centers are providing access to clinical data via clinical data warehouses such as i2b2, or Stanford’s STRIDE database. In order to realize the potential of using these data for translational research, clinical data warehouses must be interoperable with standardized health terminologies, biomedical ontologies, and growing networks of Linked Open Data such as Bio2RDF. Applying the principles of Linked Data, we transformed a de-identified version of the STRIDE into a semantic clinical data warehouse containing visits, labs, diagnoses, prescriptions, and annotated clinical notes. We demonstrate the utility of this system though basic cohort selection, phenotypic profiling, and identification of disease genes. This work is significant in that it demonstrates the feasibility of using semantic web technologies to directly exploit existing biomedical ontologies and Linked Open Data. The Linked Open Data (LOD) community project at the World Wide Web Consortium (W3C) is publishing various open data sets as Resource Description Framework (RDF) on the Web and extending it by setting RDF links between data items from different data sources containing information about genes, proteins, pathways, diseases, and drugs. While this presents a very powerful platform for federated querying and heterogeneous data integration, its true potential can only be realized when combining such information with "real patient" data from electronic health records. In this paper, we report our early experiences in applying Linked Data principles and technologies for representing patient data from electronic health records (EHRs) at Mayo Clinic in RDF. In particular, we demonstrate a proof-of-concept case study leveraging publicly available data from the Linked Open Drug Data cloud to federated querying for type 2 diabetes patients. Our study highlights several challenges and opportunities in using Semantic Web tools and technologies within a healthcare setting for enabling clinical and translational research. The World Health Organization is beginning to use Semantic Web technologies in the development of the 11th revision of the International Classification of Diseases (ICD-11). Health officials use ICD in all United Nations member countries to compile basic health statistics, to monitor health-related spending, and to inform policy makers. While previous revisions of ICD encoded minimal information about a disease, and were mainly published as books and tabulation lists, the creators of ICD-11 envision that it will become a multipurpose and coherent classification ready for electronic health records. Most important, they plan to have ICD-11 applied for a much broader variety of uses than previous revisions. The new requirements entail significant changes in the way we represent disease information, as well as in the technologies and processes that we use to acquire the new content. In this paper, we describe the previous processes and technologies used for developing ICD. We then describe the requirements for the new development process and present the SemanticWeb technologies that we use for ICD-11. We outline the experiences of the domain experts using the software system that we implemented using Semantic Web technologies. We then discuss the benefits and challenges in following this approach and conclude with lessons learned from this experience. This issue of JAMIA focuses on natural language processing (NLP) techniques for clinical-text information extraction. Several articles are offshoots of the yearly ‘Informatics for Integrating Biology and the Bedside’ (i2b2) (http: www.i2b2.org) NLP shared-task challenge, introduced by ( see page 552 )1 and co-sponsored by the Veteran's Administration for the last 2 years. This shared task follows long-running challenge evaluations in other fields, such as the Message Understanding Conference (MUC) for information extraction,2 TREC3 for text information retrieval, and CASP4 for protein structure prediction. Shared tasks in the clinical domain are recent and include annual i2b2 Challenges that began in 2006, a challenge for multi-label classification of radiology reports sponsored by Cincinnati Children's Hospital in 2007,5 a 2011 Cincinnati Children's Hospital challenge on suicide notes,6 and the 2011 TREC information retrieval shared task involving retrieval of clinical cases from narrative records.7 @PARASPLIT Although NLP research in the clinical domain has been active since the 1960s, progress in the development of NLP applications for clinical text has been slow and lags behind progress in the general NLP domain. There are several barriers to NLP development in the clinical domain, and shared tasks like the i2b2 VA Challenge address some of these barriers. Nevertheless, many barriers remain and unless the community takes a more active role in developing novel approaches for addressing the barriers, advancement and innovation will continue to be slow. @PARASPLIT Historically, there have been substantial barriers to NLP development in the clinical domain. These barriers are not unique to the clinical domain: they also occur in the fields of software engineering and general NLP. @PARASPLIT ### Lack of access to shared data @PARASPLIT Because of concerns regarding patient privacy and worry about revealing unfavorable institutional practices, hospitals and clinics have been extremely reluctant to allow access to clinical data for researchers from outside … @PARASPLIT Correspondence to Dr Wendy W Chapman, Department of Biomedical Informatics, University of California San Diego, 9500 Gilman Dr, Bldg 2 #0728, La Jolla, California, USA; wwchapman at ucsd.edu Bio2RDF is an open source project to generate and provide Linked Data for the Life Sciences. Here, we report on a third coordinated release of ∼11 billion triples across 30 biomedical databases and datasets, representing a 10 fold increase in the number of triples since Bio2RDF Release 2 (Jan 2013). New clinically relevant datasets have been added. New features in this release include improved data quality, typing of every URI, extended dataset statistics, tighter integration, and a refactored linked data platform. Bio2RDF data is available via REST services, SPARQL endpoints, and downloadable files. Knowledge graphs (KGs), i.e. representation of information as a semantic graph, provide a significant test bed for many tasks including question answering, recommendation, and link prediction. Various amount of scholarly metadata have been made vailable as knowledge graphs from the diversity of data providers and agents. However, these high-quantities of data remain far from quality criteria in terms of completeness while growing at a rapid pace. Most of the attempts in completing such KGs are following traditional data digitization, harvesting and collaborative curation approaches. Whereas, advanced AI-related approaches such as embedding models - specifically designed for such tasks - are usually evaluated for standard benchmarks such as Freebase and Wordnet. The tailored nature of such datasets prevents those approaches to shed the lights on more accurate discoveries. Application of such models on domain-specific KGs takes advantage of enriched meta-data and provides accurate results where the underlying domain can enormously benefit. In this work, the TransE embedding model is reconciled for a specific link prediction task on scholarly metadata. The results show a significant shift in the accuracy and performance evaluation of the model on a dataset with scholarly metadata. The newly proposed version of TransE obtains 99.9 for link prediction task while original TransE gets 95 . In terms of accuracy and Hit@10, TransE outperforms other embedding models such as ComplEx, TransH and TransR experimented over scholarly knowledge graphs Motivation: Medical Subject Headings (MeSH) indexing, which is to assign a set of MeSH main headings to citations, is crucial for many important tasks in biomedical text mining and information retrieval. Large-scale MeSH indexing has two challenging aspects: the citation side and MeSH side. For the citation side, all existing methods, including Medical Text Indexer (MTI) by National Library of Medicine and the state-of-the-art method, MeSHLabeler, deal with text by bag-of-words, which cannot capture semantic and context-dependent information well. Methods: We propose DeepMeSH that incorporates deep semantic information for large-scale MeSH indexing. It addresses the two challenges in both citation and MeSH sides. The citation side challenge is solved by a new deep semantic representation, D2V-TFIDF, which concatenates both sparse and dense semantic representations. The MeSH side challenge is solved by using the ‘learning to rank’ framework of MeSHLabeler, which integrates various types of evidence generated from the new semantic representation. Results: DeepMeSH achieved a Micro F-measure of 0.6323, 2 higher than 0.6218 of MeSHLabeler and 12 higher than 0.5637 of MTI, for BioASQ3 challenge data with 6000 citations. Availability and Implementation: The software is available upon request. Contact: nc.ude.naduf@fsuhz Supplementary information: Supplementary data are available at Bioinformatics online. Background Recently there has been an explosion of new data sources about genes, proteins, genetic variations, chemical compounds, diseases and drugs. Integration of these data sources and the identification of patterns that go across them is of critical interest. Initiatives such as Bio2RDF and LODD have tackled the problem of linking biological data and drug data respectively using RDF. Thus far, the inclusion of chemogenomic and systems chemical biology information that crosses the domains of chemistry and biology has been very limited Representing the semantics of unstructured scientific publications will certainly facilitate access and search and hopefully lead to new discoveries. However, current digital libraries are usually limited to classic flat structured metadata even for scientific publications that potentially contain rich semantic metadata. In addition, how to search the scientific literature of linked semantic metadata is an open problem. We have developed a semantic digital library oreChem ChemxSeer that models chemistry papers with semantic metadata. It stores and indexes extracted metadata from a chemistry paper repository Chemx Seer using "compound objects". We use the Open Archives Initiative Object Reuse and Exchange (OAI-ORE) (http: www.openarchives.org ore standard to define a compound object that aggregates metadata fields related to a digital object. Aggregated metadata can be managed and retrieved easily as one unit resulting in improved ease-of-use and has the potential to improve the semantic interpretation of shared data. We show how metadata can be extracted from documents and aggregated using OAI-ORE. ORE objects are created on demand; thus, we are able to search for a set of linked metadata with one query. We were also able to model new types of metadata easily. For example, chemists are especially interested in finding information related to experiments in documents. We show how paragraphs containing experiment information in chemistry papers can be extracted and tagged based on a chemistry ontology with 470 classes, and then represented in ORE along with other document-related metadata. Our algorithm uses a classifier with features that are words that are typically only used to describe experiments, such as "apparatus", "prepare", etc. Using a dataset comprised of documents from the Royal Society of Chemistry digital library, we show that the our proposed methodperforms well in extracting experiment-related paragraphs from chemistry documents. Objectives: In this survey, we reviewed the current state of the art in biomedical QA (Question Answering), within a broader framework of semantic knowledge-based QA approaches, and projected directions for the future research development in this critical area of intersection between Artificial Intelligence, Information Retrieval, and Biomedical Informatics. Materials and methods: We devised a conceptual framework within which to categorize current QA approaches. In particular, we used ''semantic knowledge-based QA'' as a category under which to subsume QA techniques and approaches, both corpus-based and knowledge base (KB)-based, that utilize semantic knowledge-informed techniques in the QA process, and we further classified those approaches into three subcategories: (1) semantics-based, (2) inference-based, and (3) logic-based. Based on the framework, we first conducted a survey of open-domain or non-biomedical-domain QA approaches that belong to each of the three subcategories. We then conducted an in-depth review of biomedical QA, by first noting the characteristics of, and resources available for, biomedical QA and then reviewing medical QA approaches and biological QA approaches, in turn. The research articles reviewed in this paper were found and selected through online searches. Results: Our review suggested the following tasks ahead for the future research development in this area: (1) Construction of domain-specific typology and taxonomy of questions (biological QA), (2) Development of more sophisticated techniques for natural language (NL) question analysis and classification, (3) Development of effective methods for answer generation from potentially conflicting evidences, (4) More extensive and integrated utilization of semantic knowledge throughout the QA process, and (5) Incorporation of logic and reasoning mechanisms for answer inference. Conclusion: Corresponding to the growth of biomedical information, there is a growing need for QA systems that can help users better utilize the ever-accumulating information. Continued research toward development of more sophisticated techniques for processing NL text, for utilizing semantic knowledge, and for incorporating logic and reasoning mechanisms, will lead to more useful QA systems. Motivation: The abundance of biomedical literature has attracted significant interest in novel methods to automatically extract biomedical relations from the literature. Until recently, most research was focused on extracting binary relations such as protein–protein interactions and drug–disease relations. However, these binary relations cannot fully represent the original biomedical data. Therefore, there is a need for methods that can extract fine-grained and complex relations known as biomedical events. Results: In this article we propose a novel method to extract biomedical events from text. Our method consists of two phases. In the first phase, training data are mapped into structured representations. Based on that, templates are used to extract rules automatically. In the second phase, extraction methods are developed to process the obtained rules. When evaluated against the Genia event extraction abstract and full-text test datasets (Task 1), we obtain results with F-scores of 52.34 and 53.34, respectively, which are comparable to the state-of-the-art systems. Furthermore, our system achieves superior performance in terms of computational efficiency. Availability: Our source code is available for academic use at http: dl.dropbox.com u 10256952 BioEvent.zip Contact: [email protected] In the past several years studies have started to appear comparing the accuracies of various science mapping approaches. These studies primarily compare the cluster solutions resulting from different similarity approaches, and give varying results. In this study we compare the accuracies of cluster solutions of a large corpus of 2,153,769 recent articles from the biomedical literature (2004–2008) using four similarity approaches: co-citation analysis, bibliographic coupling, direct citation, and a bibliographic coupling-based citation-text hybrid approach. Each of the four approaches can be considered a way to represent the research front in biomedicine, and each is able to successfully cluster over 92p of the corpus. Accuracies are compared using two metrics—within-cluster textual coherence as defined by the Jensen-Shannon divergence, and a concentration measure based on the grant-to-article linkages indexed in MEDLINE. Of the three pure citation-based approaches, bibliographic coupling slightly outperforms co-citation analysis using both accuracy measures; direct citation is the least accurate mapping approach by far. The hybrid approach improves upon the bibliographic coupling results in all respects. We consider the results of this study to be robust given the very large size of the corpus, and the specificity of the accuracy measures used. © 2010 Wiley Periodicals, Inc. The volume of biomedical literature has experienced explosive growth in recent years. This is reflected in the corresponding increase in the size of MEDLINE^(R), the largest bibliographic database of biomedical citations. Indexers at the US National Library of Medicine (NLM) need efficient tools to help them accommodate the ensuing workload. After reviewing issues in the automatic assignment of Medical Subject Headings (MeSH^(R) terms) to biomedical text, we focus more specifically on the new subheading attachment feature for NLM's Medical Text Indexer (MTI). Natural Language Processing, statistical, and machine learning methods of producing automatic MeSH main heading subheading pair recommendations were assessed independently and combined. The best combination achieves 48 precision and 30 recall. After validation by NLM indexers, a suitable combination of the methods presented in this paper was integrated into MTI as a subheading attachment feature producing MeSH indexing recommendations compliant with current state-of-the-art indexing practice. Many machine learning and pattern classification methods have been applied to the diagnosis of Alzheimer’s disease (AD) and its prodromal stage, i.e., mild cognitive impairment (MCI). Recently, rather than predicting categorical variables as in classification, several pattern regression methods have also been used to estimate continuous clinical variables from brain images. However, most existing regression methods focus on estimating multiple clinical variables separately and thus cannot utilize the intrinsic useful correlation information among different clinical variables. On the other hand, in those regression methods, only a single modality of data (usually only the structural MRI) is often used, without considering the complementary information that can be provided by different modalities. In this paper, we propose a general methodology, namely Multi-Modal Multi-Task (M3T) learning, to jointly predict multiple variables from multi-modal data. Here, the variables include not only the clinical variables used for regression but also the categorical variable used for classification, with different tasks corresponding to prediction of different variables. Specifically, our method contains two key components, i.e., (1) a multi-task feature selection which selects the common subset of relevant features for multiple variables from each modality, and (2) a multi-modal support vector machine which fuses the above-selected features from all modalities to predict multiple (regression and classification) variables. To validate our method, we perform two sets of experiments on ADNI baseline MRI, FDG-PET, and cerebrospinal fluid (CSF) data from 45 AD patients, 91 MCI patients, and 50 healthy controls (HC). In the first set of experiments, we estimate two clinical variables such as Mini Mental State Examination (MMSE) and Alzheimer’s Disease Assessment Scale - Cognitive Subscale (ADAS-Cog), as well as one categorical variable (with value of ‘AD’, ‘MCI’ or ‘HC’), from the baseline MRI, FDG-PET, and CSF data. In the second set of experiments, we predict the 2-year changes of MMSE and ADAS-Cog scores and also the conversion of MCI to AD from the baseline MRI, FDG-PET, and CSF data. The results on both sets of experiments demonstrate that our proposed M3T learning scheme can achieve better performance on both regression and classification tasks than the conventional learning methods. Providing access to relevant biomedical literature in a clinical setting has the potential to bridge a critical gap in evidence-based medicine. Here, our goal is specifically to provide relevant articles to clinicians to improve their decision-making in diagnosing, treating, and testing patients. To this end, the TREC 2014 Clinical Decision Support Track evaluated a system's ability to retrieve relevant articles in one of three categories (Diagnosis, Treatment, Test) using an idealized form of a patient medical record . Over 100 submissions from over 25 participants were evaluated on 30 topics, resulting in over 37k relevance judgments. In this article, we provide an overview of the task, a survey of the information retrieval methods employed by the participants, an analysis of the results, and a discussion on the future directions for this challenging yet important task. Abstract Objective Acquiring and representing biomedical knowledge is an increasingly important component of contemporary bioinformatics. A critical step of the process is to identify and retrieve relevant documents among the vast volume of modern biomedical literature efficiently. In the real world, many information retrieval tasks are difficult because of high data dimensionality and the lack of annotated examples to train a retrieval algorithm. Under such a scenario, the performance of information retrieval algorithms is often unsatisfactory, therefore improvements are needed. Design We studied two approaches that enhance the text categorization performance on sparse and high data dimensionality: (1) semantic-preserving dimension reduction by representing text with semantic-enriched features; and (2) augmenting training data with semi-supervised learning. A probabilistic topic model was applied to extract major semantic topics from a corpus of text of interest. The representation of documents was projected from the high-dimensional vocabulary space onto a semantic topic space with reduced dimensionality. A semi-supervised learning algorithm based on graph theory was applied to identify potential positive training cases, which were further used to augment training data. The effects of data transformation and augmentation on text categorization by support vector machine (SVM) were evaluated. Results and Conclusion Semantic-enriched data transformation and the pseudo-positive-cases augmented training data enhance the efficiency and performance of text categorization by SVM. Vast amount of medical information is increasingly available on the Web. As a result, seeking medical information through queries is gaining importance in the medical domain. The existing keyword-based search engines such as Google, Yahoo fail to suffice the needs of the health-care workers (who are well-versed with the domain knowledge required for querying) using these they often face results which are irrelevant and not useful for their tasks. In this paper, we present the need and the challenges for a user-level, domain-specific query language for the specialized document repositories of the medical domain. This topic has not been sufficiently addressed by the existing approaches including SQL-like query languages or general-purpose keyword-based search engines and document-level indexing based search. We aim to bridge the gap between information needs of the skilled semi-skilled domain users and the query capability provided by the query language. Overcoming such a challenge can facilitate effective use of large volume of information on the Web (and in the electronic health records (EHRs)repositories). With the latest developments in database technologies, it becomes easier to store the medical records of hospital patients from their first day of admission than was previously possible. In Intensive Care Units (ICU), modern medical information systems can record patient events in relational databases every second. Knowledge mining from these huge volumes of medical data is beneficial to both caregivers and patients. Given a set of electronic patient records, a system that effectively assigns the disease labels can facilitate medical database management and also benefit other researchers, e.g., pathologists. In this paper, we have proposed a framework to achieve that goal. Medical chart and note data of a patient are used to extract distinctive features. To encode patient features, we apply a Bag-of-Words encoding method for both chart and note data. We also propose a model that takes into account both global information and local correlations between diseases. Correlated diseases are characterized by a graph structure that is embedded in our sparsity-based framework. Our algorithm captures the disease relevance when labeling disease codes rather than making individual decision with respect to a specific disease. At the same time, the global optimal values are guaranteed by our proposed convex objective function. Extensive experiments have been conducted on a real-world large-scale ICU database. The evaluation results demonstrate that our method improves multi-label classification results by successfully incorporating disease correlations. In this paper, we introduce the semantic knowledge of medical images from their diagnostic reports to provide an inspirational network training and an interpretable prediction mechanism with our proposed novel multimodal neural network, namely TandemNet. Inside TandemNet, a language model is used to represent report text, which cooperates with the image model in a tandem scheme. We propose a novel dual-attention model that facilitates high-level interactions between visual and semantic information and effectively distills useful features for prediction. In the testing stage, TandemNet can make accurate image prediction with an optional report text input. It also interprets its prediction by producing attention on the image and text informative feature pieces, and further generating diagnostic report paragraphs. Based on a pathological bladder cancer images and their diagnostic reports (BCIDR) dataset, sufficient experiments demonstrate that our method effectively learns and integrates knowledge from multimodalities and obtains significantly improved performance than comparing baselines.