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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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. 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. As a new concept that emerged in the middle of 1990's, data mining can help researchers gain both novel and deep insights and can facilitate unprecedented understanding of large biomedical datasets. Data mining can uncover new biomedical and healthcare knowledge for clinical and administrative decision making as well as generate scientific hypotheses from large experimental data, clinical databases, and or biomedical literature. This review first introduces data mining in general (e.g., the background, definition, and process of data mining), discusses the major differences between statistics and data mining and then speaks to the uniqueness of data mining in the biomedical and healthcare fields. A brief summarization of various data mining algorithms used for classification, clustering, and association as well as their respective advantages and drawbacks is also presented. Suggested guidelines on how to use data mining algorithms in each area of classification, clustering, and association are offered along with three examples of how data mining has been used in the healthcare industry. Given the successful application of data mining by health related organizations that has helped to predict health insurance fraud and under-diagnosed patients, and identify and classify at-risk people in terms of health with the goal of reducing healthcare cost, we introduce how data mining technologies (in each area of classification, clustering, and association) have been used for a multitude of purposes, including research in the biomedical and healthcare fields. A discussion of the technologies available to enable the prediction of healthcare costs (including length of hospital stay), disease diagnosis and prognosis, and the discovery of hidden biomedical and healthcare patterns from related databases is offered along with a discussion of the use of data mining to discover such relationships as those between health conditions and a disease, relationships among diseases, and relationships among drugs. The article concludes with a discussion of the problems that hamper the clinical use of data mining by health professionals. 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. 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. The use of crowdsourcing to solve important but complex problems in biomedical and clinical sciences is growing and encompasses a wide variety of approaches. The crowd is diverse and includes online marketplace workers, health information seekers, science enthusiasts and domain experts. In this article, we review and highlight recent studies that use crowdsourcing to advance biomedicine. We classify these studies into two broad categories: (i) mining big data generated from a crowd (e.g. search logs) and (ii) active crowdsourcing via specific technical platforms, e.g. labor markets, wikis, scientific games and community challenges. Through describing each study in detail, we demonstrate the applicability of different methods in a variety of domains in biomedical research, including genomics, biocuration and clinical research. Furthermore, we discuss and highlight the strengths and limitations of different crowdsourcing platforms. Finally, we identify important emerging trends, opportunities and remaining challenges for future crowdsourcing research in biomedicine. Objective To summarize literature describing approaches aimed at automatically identifying patients with a common phenotype. @PARASPLIT Materials and methods We performed a review of studies describing systems or reporting techniques developed for identifying cohorts of patients with specific phenotypes. Every full text article published in (1) Journal of American Medical Informatics Association , (2) Journal of Biomedical Informatics , (3) Proceedings of the Annual American Medical Informatics Association Symposium , and (4) Proceedings of Clinical Research Informatics Conference within the past 3 years was assessed for inclusion in the review. Only articles using automated techniques were included. @PARASPLIT Results Ninety-seven articles met our inclusion criteria. Forty-six used natural language processing (NLP)-based techniques, 24 described rule-based systems, 41 used statistical analyses, data mining, or machine learning techniques, while 22 described hybrid systems. Nine articles described the architecture of large-scale systems developed for determining cohort eligibility of patients. @PARASPLIT Discussion We observe that there is a rise in the number of studies associated with cohort identification using electronic medical records. Statistical analyses or machine learning, followed by NLP techniques, are gaining popularity over the years in comparison with rule-based systems. @PARASPLIT Conclusions There are a variety of approaches for classifying patients into a particular phenotype. Different techniques and data sources are used, and good performance is reported on datasets at respective institutions. However, no system makes comprehensive use of electronic medical records addressing all of their known weaknesses. Objectives: We examine recent published research on the extraction of information from textual documents in the Electronic Health Record (EHR). Methods: Literature review of the research published after 1995, based on PubMed, conference proceedings, and the ACM Digital Library, as well as on relevant publications referenced in papers already included. Results: 174 publications were selected and are discussed in this review in terms of methods used, pre-processing of textual documents, contextual features detection and analysis, extraction of information in general, extraction of codes and of information for decision-support and enrichment of the EHR, information extraction for surveillance, research, automated terminology management, and data mining, and de-identification of clinical text. Conclusions: Performance of information extraction systems with clinical text has improved since the last systematic review in 1995, but they are still rarely applied outside of the laboratory they have been developed in. Competitive challenges for information extraction from clinical text, along with the availability of annotated clinical text corpora, and further improvements in system performance are important factors to stimulate advances in this field and to increase the acceptance and usage of these systems in concrete clinical and biomedical research contexts. Cli 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. With pervasive applications of medical imaging in health-care, biomedical image segmentation plays a central role in quantitative analysis, clinical diagnosis, and medical intervention. Since manual annotation suffers limited reproducibility, arduous efforts, and excessive time, automatic segmentation is desired to process increasingly larger scale histopathological data. Recently, deep neural networks (DNNs), particularly fully convolutional networks (FCNs), have been widely applied to biomedical image segmentation, attaining much improved performance. At the same time, quantization of DNNs has become an active research topic, which aims to represent weights with less memory (precision) to considerably reduce memory and computation requirements of DNNs while maintaining acceptable accuracy. In this paper, we apply quantization techniques to FCNs for accurate biomedical image segmentation. Unlike existing literatures on quantization which primarily targets memory and computation complexity reduction, we apply quantization as a method to reduce overfitting in FCNs for better accuracy. Specifically, we focus on a state-of-the-art segmentation framework, suggestive annotation [26], which judiciously extracts representative annotation samples from the original training dataset, obtaining an effective small-sized balanced training dataset. We develop two new quantization processes for this framework: (1) suggestive annotation with quantization for highly representative training samples, and (2) network training with quantization for high accuracy. Extensive experiments on the MICCAI Gland dataset show that both quantization processes can improve the segmentation performance, and our proposed method exceeds the current state-of-the-art performance by up to 1 . In addition, our method has a reduction of up to 6.4x on memory usage. In recent years, ontologies have become a mainstream topic in biomedical research. When biological entities are described using a common schema, such as an ontology, they can be compared by means of their annotations. This type of comparison is called semantic similarity, since it assesses the degree of relatedness between two entities by the similarity in meaning of their annotations. The application of semantic similarity to biomedical ontologies is recent; nevertheless, several studies have been published in the last few years describing and evaluating diverse approaches. Semantic similarity has become a valuable tool for validating the results drawn from biomedical studies such as gene clustering, gene expression data analysis, prediction and validation of molecular interactions, and disease gene prioritization. We review semantic similarity measures applied to biomedical ontologies and propose their classification according to the strategies they employ: node-based versus edge-based and pairwise versus groupwise. We also present comparative assessment studies and discuss the implications of their results. We survey the existing implementations of semantic similarity measures, and we describe examples of applications to biomedical research. This will clarify how biomedical researchers can benefit from semantic similarity measures and help them choose the approach most suitable for their studies. Biomedical ontologies are evolving toward increased coverage, formality, and integration, and their use for annotation is increasingly becoming a focus of both effort by biomedical experts and application of automated annotation procedures to create corpora of higher quality and completeness than are currently available. Given that semantic similarity measures are directly dependent on these evolutions, we can expect to see them gaining more relevance and even becoming as essential as sequence similarity is today in biomedical research. Information visualization and data visualization are often viewed as similar, but distinct domains, and they have drawn an increasingly broad range of interest from diverse sectors of academia and industry. This study systematically analyzes and compares the intellectual landscapes of the two domains between 2000 and 2014. The present study is based on bibliographic records retrieved from the Web of Science. Using a topic search and a citation expansion, we collected two sets of data in each domain. Then, we identified emerging trends and recent developments in information visualization and data visualization, captivated in intellectual landscapes, landmark articles, bursting keywords, and citation trends of the domains. We found out that both domains have computer engineering and applications as their shared grounds. Our study reveals that information visualization and data visualization have scrutinized algorithmic concepts underlying the domains in their early years. Successive literature citing the datasets focuses on applying information and data visualization techniques to biomedical research. Recent thematic trends in the fields reflect that they are also diverging from each other. In data visualization, emerging topics and new developments cover dimensionality reduction and applications of visual techniques to genomics. Information visualization research is scrutinizing cognitive and theoretical aspects. In conclusion, information visualization and data visualization have co-evolved. At the same time, both fields are distinctively developing with their own scientific interests. Biomedical text mining is becoming increasingly important as the number of biomedical documents rapidly grows. With the progress in machine learning, extracting valuable information from biomedical literature has gained popularity among researchers, and deep learning has boosted the development of effective biomedical text mining models. However, as deep learning models require a large amount of training data, applying deep learning to biomedical text mining is often unsuccessful due to the lack of training data in biomedical fields. Recent researches on training contextualized language representation models on text corpora shed light on the possibility of leveraging a large number of unannotated biomedical text corpora. We introduce BioBERT (Bidirectional Encoder Representations from Transformers for Biomedical Text Mining), which is a domain specific language representation model pre-trained on large-scale biomedical corpora. Based on the BERT architecture, BioBERT effectively transfers the knowledge from a large amount of biomedical texts to biomedical text mining models with minimal task-specific architecture modifications. While BERT shows competitive performances with previous state-of-the-art models, BioBERT significantly outperforms them on the following three representative biomedical text mining tasks: biomedical named entity recognition (0.51 absolute improvement), biomedical relation extraction (3.49 absolute improvement), and biomedical question answering (9.61 absolute improvement). We make the pre-trained weights of BioBERT freely available at this https URL, and the source code for fine-tuning BioBERT available at this https URL. With the advent of electronic health records, more data are continuously collected for individual patients, and more data are available for review from past patients. Despite this, it has not yet been possible to successfully use this data to systematically build clinical decision support systems that can produce personalized clinical recommendations to assist clinicians in providing individualized healthcare. In this paper, we present a novel approach, discovery engine (DE), that discovers which patient characteristics are most relevant for predicting the correct diagnosis and or recommending the best treatment regimen for each patient. We demonstrate the performance of DE in two clinical settings: diagnosis of breast cancer as well as a personalized recommendation for a specific chemotherapy regimen for breast cancer patients. For each distinct clinical recommendation, different patient features are relevant; DE can discover these different relevant features and use them to recommend personalized clinical decisions. The DE approach achieves a 16.6 improvement over existing state-of-the-art recommendation algorithms regarding kappa coefficients for recommending the personalized chemotherapy regimens. For diagnostic predictions, the DE approach achieves a 2.18 and 4.20 improvement over existing state-of-the-art prediction algorithms regarding prediction error rate and false positive rate, respectively. We also demonstrate that the performance of our approach is robust against missing information and that the relevant features discovered by DE are confirmed by clinical references. The range of publicly available biomedical data is enormous and is expanding fast. This expansion means that researchers now face a hurdle to extracting the data they need from the large numbers of data that are available. Biomedical researchers have turned to ontologies and terminologies to structure and annotate their data with ontology concepts for better search and retrieval. However, this annotation process cannot be easily automated and often requires expert curators. Plus, there is a lack of easy-to-use systems that facilitate the use of ontologies for annotation. This paper presents the Open Biomedical Annotator (OBA), an ontology-based Web service that annotates public datasets with biomedical ontology concepts based on their textual metadata (www.bioontology.org). The biomedical community can use the annotator service to tag datasets automatically with ontology terms (from UMLS and NCBO BioPortal ontologies). Such annotations facilitate translational discoveries by integrating annotated data.[1] The old Asian legend about the blind men and the elephant comes to mind when looking at how different authors of scientific papers describe a piece of related prior work. It turns out that different citations to the same paper often focus on different aspects of that paper and that neither provides a full description of its full set of contributions. In this article, we will describe our investigation of this phenomenon. We studied citation summaries in the context of research papers in the biomedical domain. A citation summary is the set of citing sentences for a given article and can be used as a surrogate for the actual article in a variety of scenarios. It contains information that was deemed by peers to be important. Our study shows that citation summaries overlap to some extent with the abstracts of the papers and that they also differ from them in that they focus on different aspects of these papers than do the abstracts. In addition to this, co-cited articles (which are pairs of articles cited by another article) tend to be similar. We show results based on a lexical similarity metric called cohesion to justify our claims. © 2008 Wiley Periodicals, Inc. In recent years scholars have built maps of science by connecting the academic fields that cite each other, are cited together, or that cite a similar literature. But since scholars cannot always publish in the fields they cite, or that cite them, these science maps are only rough proxies for the potential of a scholar, organization, or country, to enter a new academic field. Here we use a large dataset of scholarly publications disambiguated at the individual level to create a map of science-or research space-where links connect pairs of fields based on the probability that an individual has published in both of them. We find that the research space is a significantly more accurate predictor of the fields that individuals and organizations will enter in the future than citation based science maps. At the country level, however, the research space and citations based science maps are equally accurate. These findings show that data on career trajectories-the set of fields that individuals have previously published in-provide more accurate predictors of future research output for more focalized units-such as individuals or organizations-than citation based science maps. 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 Accuracy and interpretation are two goals of any successful predictive models. Most existing works have to suffer the tradeoff between the two by either picking complex black box models such as recurrent neural networks (RNN) or relying on less accurate traditional models with better interpretation such as logistic regression. To address this dilemma, we present REverse Time AttentIoN model (RETAIN) for analyzing Electronic Health Records (EHR) data that achieves high accuracy while remaining clinically interpretable. RETAIN is a two-level neural attention model that can find influential past visits and significant clinical variables within those visits (e.g,. key diagnoses). RETAIN mimics physician practice by attending the EHR data in a reverse time order so that more recent clinical visits will likely get higher attention. Experiments on a large real EHR dataset of 14 million visits from 263K patients over 8 years confirmed the comparable predictive accuracy and computational scalability to the state-of-the-art methods such as RNN. Finally, we demonstrate the clinical interpretation with concrete examples from RETAIN. Substantial interpatient variations were demonstrated in the daily doses required to obtain therapeutic gentamicin sulfate serum concentrations in 417 elderly patients. Dosages ranged from 0.3 to 22.0 mg kg day in patients with a normal serum creatinine level. Twenty-five percent of these patients required daily doses higher than the standard regimen of 5 mg kg day, and 33 required less than 3 mg kg day. The drug half-lives in these patients ranged from 0.3 to 32.7 hours, compared with previous reports of 2.5 to four hours. The distribution volumes of these patients ranged from 0.07 to 0.53 L kg, compared with reported values of 0.20 to 0.25 L kg. These wide variations in kinetic variables in elderly patients and the need to obtain narrow ranges in serum concentrations required measuring serum concentrations and individually calculating each patient's dosage requirement early in the treatment course. Doing this consistently produced optimal peak and trough serum levels. Ototoxicity did not occur in any of the patients, and nephrotoxicity may have been drug related in 2 of the elderly patients. ( JAMA 1982;248:3122-3126)