EpiphaNet: An Interactive Tool to Support Biomedical Discoveries

Background. EpiphaNet (http://epiphanet.uth.tmc.edu) is an interactive knowledge discovery system, which enables researchers to explore visually sets of relations extracted from MEDLINE using a combination of language processing techniques. In this paper, we discuss the theoretical and methodological foundations of the system, and evaluate the utility of the models that underlie it for literature‐based discovery. In addition, we present a summary of results drawn from a qualitative analysis of over six hours of interaction with the system by basic medical scientists. Results: The system is able to simulate open and closed discovery, and is shown to generate associations that are both surprising and interesting within the area of expertise of the researchers concerned. Conclusions: EpiphaNet provides an interactive visual representation of associations between concepts, which is derived from distributional statistics drawn from across the spectrum of biomedical citations in MEDLINE. This tool is available online, providing biomedical scientists with the opportunity to identify and explore associations of interest to them

Capturing Scientific Knowledge on Medical Risk Factors

In this paper, we describe a model for representing scientific knowledge of risk factors in medicine in an explicit format which enables its use for automated reasoning. The resulting model supports linking the conclusions of up-to-date clinical research with data relating to individual patients. This model, which we have implemented as an ontology-based system using Linked Data, enables the capture of risk factor knowledge and serves as a translational research tool to apply that knowledge to assist with patient treatment, lifestyle, and education. Knowledge captured using this model can be disseminated for other intelligent systems to use for a variety of purposes, for example, to explore the state of the available medical knowledge

Enhancing clinical concept extraction with distributional semantics

AbstractExtracting concepts (such as drugs, symptoms, and diagnoses) from clinical narratives constitutes a basic enabling technology to unlock the knowledge within and support more advanced reasoning applications such as diagnosis explanation, disease progression modeling, and intelligent analysis of the effectiveness of treatment. The recent release of annotated training sets of de-identified clinical narratives has contributed to the development and refinement of concept extraction methods. However, as the annotation process is labor-intensive, training data are necessarily limited in the concepts and concept patterns covered, which impacts the performance of supervised machine learning applications trained with these data. This paper proposes an approach to minimize this limitation by combining supervised machine learning with empirical learning of semantic relatedness from the distribution of the relevant words in additional unannotated text.The approach uses a sequential discriminative classifier (Conditional Random Fields) to extract the mentions of medical problems, treatments and tests from clinical narratives. It takes advantage of all Medline abstracts indexed as being of the publication type “clinical trials” to estimate the relatedness between words in the i2b2/VA training and testing corpora. In addition to the traditional features such as dictionary matching, pattern matching and part-of-speech tags, we also used as a feature words that appear in similar contexts to the word in question (that is, words that have a similar vector representation measured with the commonly used cosine metric, where vector representations are derived using methods of distributional semantics). To the best of our knowledge, this is the first effort exploring the use of distributional semantics, the semantics derived empirically from unannotated text often using vector space models, for a sequence classification task such as concept extraction. Therefore, we first experimented with different sliding window models and found the model with parameters that led to best performance in a preliminary sequence labeling task.The evaluation of this approach, performed against the i2b2/VA concept extraction corpus, showed that incorporating features based on the distribution of words across a large unannotated corpus significantly aids concept extraction. Compared to a supervised-only approach as a baseline, the micro-averaged F-score for exact match increased from 80.3% to 82.3% and the micro-averaged F-score based on inexact match increased from 89.7% to 91.3%. These improvements are highly significant according to the bootstrap resampling method and also considering the performance of other systems. Thus, distributional semantic features significantly improve the performance of concept extraction from clinical narratives by taking advantage of word distribution information obtained from unannotated data

Searching COVID-19 clinical research using graphical abstracts

Objective. Graphical abstracts are small graphs of concepts that visually summarize the main findings of scientific articles. While graphical abstracts are customarily used in scientific publications to anticipate and summarize their main results, we propose them as a means for expressing graph searches over existing literature. Materials and methods. We consider the COVID-19 Open Research Dataset (CORD-19), a corpus of more than one million abstracts; each of them is described as a graph of co-occurring ontological terms, selected from the Unified Medical Language System (UMLS) and the Ontology of Coronavirus Infectious Disease (CIDO). Graphical abstracts are also expressed as graphs of ontological terms, possibly augmented by utility terms describing their interactions (e.g., "associated with", "increases", "induces"). We build a co-occurrence network of concepts mentioned in the corpus; we then identify the best matches of graphical abstracts on the network. We exploit graph database technology and shortest-path queries. Results. We build a large co-occurrence network, consisting of 128,249 entities and 47,198,965 relationships. A well-designed interface allows users to explore the network by formulating or adapting queries in the form of an abstract; it produces a bibliography of publications, globally ranked; each publication is further associated with the specific parts of the abstract that it explains, thereby allowing the user to understand each aspect of the matching. Discussion and Conclusion. Our approach supports the process of scientific hypothesis formulation and evidence search; it can be reapplied to any scientific domain, although our mastering of UMLS makes it most suited to clinical domains.Comment: 12 pages, 6 figure

A comparison of parsing technologies for the biomedical domain

This paper reports on a number of experiments which are designed to investigate the extent to which current nlp resources are able to syntactically and semantically analyse biomedical text. We address two tasks: parsing a real corpus with a hand-built widecoverage grammar, producing both syntactic analyses and logical forms; and automatically computing the interpretation of compound nouns where the head is a nominalisation (e.g., hospital arrival means an arrival at hospital, while patient arrival means an arrival of a patient). For the former task we demonstrate that exible and yet constrained `preprocessing ' techniques are crucial to success: these enable us to use part-of-speech tags to overcome inadequate lexical coverage, and to `package up' complex technical expressions prior to parsing so that they are blocked from creating misleading amounts of syntactic complexity. We argue that the xml-processing paradigm is ideally suited for automatically preparing the corpus for parsing. For the latter task, we compute interpretations of the compounds by exploiting surface cues and meaning paraphrases, which in turn are extracted from the parsed corpus. This provides an empirical setting in which we can compare the utility of a comparatively deep parser vs. a shallow one, exploring the trade-o between resolving attachment ambiguities on the one hand and generating errors in the parses on the other. We demonstrate that a model of the meaning of compound nominalisations is achievable with the aid of current broad-coverage parsers

Indirect Relatedness, Evaluation, and Visualization for Literature Based Discovery

The exponential growth of scientific literature is creating an increased need for systems to process and assimilate knowledge contained within text. Literature Based Discovery (LBD) is a well established field that seeks to synthesize new knowledge from existing literature, but it has remained primarily in the theoretical realm rather than in real-world application. This lack of real-world adoption is due in part to the difficulty of LBD, but also due to several solvable problems present in LBD today. Of these problems, the ones in most critical need of improvement are: (1) the over-generation of knowledge by LBD systems, (2) a lack of meaningful evaluation standards, and (3) the difficulty interpreting LBD output. We address each of these problems by: (1) developing indirect relatedness measures for ranking and filtering LBD hypotheses; (2) developing a representative evaluation dataset and applying meaningful evaluation methods to individual components of LBD; (3) developing an interactive visualization system that allows a user to explore LBD output in its entirety. In addressing these problems, we make several contributions, most importantly: (1) state of the art results for estimating direct semantic relatedness, (2) development of set association measures, (3) development of indirect association measures, (4) development of a standard LBD evaluation dataset, (5) division of LBD into discrete components with well defined evaluation methods, (6) development of automatic functional group discovery, and (7) integration of indirect relatedness measures and automatic functional group discovery into a comprehensive LBD visualization system. Our results inform future development of LBD systems, and contribute to creating more effective LBD systems

Searching COVID-19 Clinical Research Using Graph Queries: Algorithm Development and Validation

Background: Since the beginning of the COVID-19 pandemic, >1 million studies have been collected within the COVID-19 Open Research Dataset, a corpus of manuscripts created to accelerate research against the disease. Their related abstracts hold a wealth of information that remains largely unexplored and difficult to search due to its unstructured nature. Keyword-based search is the standard approach, which allows users to retrieve the documents of a corpus that contain (all or some of) the words in a target list. This type of search, however, does not provide visual support to the task and is not suited to expressing complex queries or compensating for missing specifications. Objective: This study aims to consider small graphs of concepts and exploit them for expressing graph searches over existing COVID-19-related literature, leveraging the increasing use of graphs to represent and query scientific knowledge and providing a user-friendly search and exploration experience. Methods: We considered the COVID-19 Open Research Dataset corpus and summarized its content by annotating the publications' abstracts using terms selected from the Unified Medical Language System and the Ontology of Coronavirus Infectious Disease. Then, we built a co-occurrence network that includes all relevant concepts mentioned in the corpus, establishing connections when their mutual information is relevant. A sophisticated graph query engine was built to allow the identification of the best matches of graph queries on the network. It also supports partial matches and suggests potential query completions using shortest paths. Results: We built a large co-occurrence network, consisting of 128,249 entities and 47,198,965 relationships; the GRAPH-SEARCH interface allows users to explore the network by formulating or adapting graph queries; it produces a bibliography of publications, which are globally ranked; and each publication is further associated with the specific parts of the query that it explains, thereby allowing the user to understand each aspect of the matching. Conclusions: Our approach supports the process of query formulation and evidence search upon a large text corpus; it can be reapplied to any scientific domain where documents corpora and curated ontologies are made available

In the pursuit of a semantic similarity metric based on UMLS annotations for articles in PubMed Central

Motivation Although full-text articles are provided by the publishers in electronic formats, it remains a challenge to find related work beyond the title and abstract context. Identifying related articles based on their abstract is indeed a good starting point; this process is straightforward and does not consume as many resources as full-text based similarity would require. However, further analyses may require in-depth understanding of the full content. Two articles with highly related abstracts can be substantially different regarding the full content. How similarity differs when considering title-and-abstract versus full-text and which semantic similarity metric provides better results when dealing with full-text articles are the main issues addressed in this manuscript. Methods We have benchmarked three similarity metrics – BM25, PMRA, and Cosine, in order to determine which one performs best when using concept-based annotations on full-text documents. We also evaluated variations in similarity values based on title-and-abstract against those relying on full-text. Our test dataset comprises the Genomics track article collection from the 2005 Text Retrieval Conference. Initially, we used an entity recognition software to semantically annotate titles and abstracts as well as full-text with concepts defined in the Unified Medical Language System (UMLS®). For each article, we created a document profile, i.e., a set of identified concepts, term frequency, and inverse document frequency; we then applied various similarity metrics to those document profiles. We considered correlation, precision, recall, and F1 in order to determine which similarity metric performs best with concept-based annotations. For those full-text articles available in PubMed Central Open Access (PMC-OA), we also performed dispersion analyses in order to understand how similarity varies when considering full-text articles. Results We have found that the PubMed Related Articles similarity metric is the most suitable for full-text articles annotated with UMLS concepts. For similarity values above 0.8, all metrics exhibited an F1 around 0.2 and a recall around 0.1; BM25 showed the highest precision close to 1; in all cases the concept-based metrics performed better than the word-stem-based one. Our experiments show that similarity values vary when considering only title-and-abstract versus full-text similarity. Therefore, analyses based on full-text become useful when a given research requires going beyond title and abstract, particularly regarding connectivity across articles. Availability Visualization available at ljgarcia.github.io/semsim.benchmark/, data available at http://dx.doi.org/10.5281/zenodo.13323.The authors acknowledge the support from the members of Temporal Knowledge Bases Group at Universitat Jaume I. Funding: LJGC and AGC are both self-funded, RB is funded by the “Ministerio de Economía y Competitividad” with contract number TIN2011-24147