Knowledge-based Biomedical Data Science 2019

Knowledge-based biomedical data science (KBDS) involves the design and implementation of computer systems that act as if they knew about biomedicine. Such systems depend on formally represented knowledge in computer systems, often in the form of knowledge graphs. Here we survey the progress in the last year in systems that use formally represented knowledge to address data science problems in both clinical and biological domains, as well as on approaches for creating knowledge graphs. Major themes include the relationships between knowledge graphs and machine learning, the use of natural language processing, and the expansion of knowledge-based approaches to novel domains, such as Chinese Traditional Medicine and biodiversity.Comment: Manuscript 43 pages with 3 tables; Supplemental material 43 pages with 3 table

Computational Advances in Drug Safety: Systematic and Mapping Review of Knowledge Engineering Based Approaches

Drug Safety (DS) is a domain with significant public health and social impact. Knowledge Engineering (KE) is the Computer Science discipline elaborating on methods and tools for developing “knowledge-intensive” systems, depending on a conceptual “knowledge” schema and some kind of “reasoning” process. The present systematic and mapping review aims to investigate KE-based approaches employed for DS and highlight the introduced added value as well as trends and possible gaps in the domain. Journal articles published between 2006 and 2017 were retrieved from PubMed/MEDLINE and Web of Science® (873 in total) and filtered based on a comprehensive set of inclusion/exclusion criteria. The 80 finally selected articles were reviewed on full-text, while the mapping process relied on a set of concrete criteria (concerning specific KE and DS core activities, special DS topics, employed data sources, reference ontologies/terminologies, and computational methods, etc.). The analysis results are publicly available as online interactive analytics graphs. The review clearly depicted increased use of KE approaches for DS. The collected data illustrate the use of KE for various DS aspects, such as Adverse Drug Event (ADE) information collection, detection, and assessment. Moreover, the quantified analysis of using KE for the respective DS core activities highlighted room for intensifying research on KE for ADE monitoring, prevention and reporting. Finally, the assessed use of the various data sources for DS special topics demonstrated extensive use of dominant data sources for DS surveillance, i.e., Spontaneous Reporting Systems, but also increasing interest in the use of emerging data sources, e.g., observational healthcare databases, biochemical/genetic databases, and social media. Various exemplar applications were identified with promising results, e.g., improvement in Adverse Drug Reaction (ADR) prediction, detection of drug interactions, and novel ADE profiles related with specific mechanisms of action, etc. Nevertheless, since the reviewed studies mostly concerned proof-of-concept implementations, more intense research is required to increase the maturity level that is necessary for KE approaches to reach routine DS practice. In conclusion, we argue that efficiently addressing DS data analytics and management challenges requires the introduction of high-throughput KE-based methods for effective knowledge discovery and management, resulting ultimately, in the establishment of a continuous learning DS system

A UMLS-based spell checker for natural language processing in vaccine safety

BACKGROUND: The Institute of Medicine has identified patient safety as a key goal for health care in the United States. Detecting vaccine adverse events is an important public health activity that contributes to patient safety. Reports about adverse events following immunization (AEFI) from surveillance systems contain free-text components that can be analyzed using natural language processing. To extract Unified Medical Language System (UMLS) concepts from free text and classify AEFI reports based on concepts they contain, we first needed to clean the text by expanding abbreviations and shortcuts and correcting spelling errors. Our objective in this paper was to create a UMLS-based spelling error correction tool as a first step in the natural language processing (NLP) pipeline for AEFI reports. METHODS: We developed spell checking algorithms using open source tools. We used de-identified AEFI surveillance reports to create free-text data sets for analysis. After expansion of abbreviated clinical terms and shortcuts, we performed spelling correction in four steps: (1) error detection, (2) word list generation, (3) word list disambiguation and (4) error correction. We then measured the performance of the resulting spell checker by comparing it to manual correction. RESULTS: We used 12,056 words to train the spell checker and tested its performance on 8,131 words. During testing, sensitivity, specificity, and positive predictive value (PPV) for the spell checker were 74% (95% CI: 74–75), 100% (95% CI: 100–100), and 47% (95% CI: 46%–48%), respectively. CONCLUSION: We created a prototype spell checker that can be used to process AEFI reports. We used the UMLS Specialist Lexicon as the primary source of dictionary terms and the WordNet lexicon as a secondary source. We used the UMLS as a domain-specific source of dictionary terms to compare potentially misspelled words in the corpus. The prototype sensitivity was comparable to currently available tools, but the specificity was much superior. The slow processing speed may be improved by trimming it down to the most useful component algorithms. Other investigators may find the methods we developed useful for cleaning text using lexicons specific to their area of interest

A conceptual framework for studying collective reactions to events in location-based social media

Events are a core concept of spatial information, but location-based social media (LBSM) provide information on reactions to events. Individuals have varied degrees of agency in initiating, reacting to or modifying the course of events, and reactions include observations of occurrence, expressions containing sentiment or emotions, or a call to action. Key characteristics of reactions include referent events and information about who reacted, when, where and how. Collective reactions are composed of multiple individual reactions sharing common referents. They can be characterized according to the following dimensions: spatial, temporal, social, thematic and interlinkage. We present a conceptual framework, which allows characterization and comparison of collective reactions. For a thematically well-defined class of event such as storms, we can explore differences and similarities in collective attribution of meaning across space and time. Other events may have very complex spatio-temporal signatures (e.g. political processes such as Brexit or elections), which can be decomposed into series of individual events (e.g. a temporal window around the result of a vote). The purpose of our framework is to explore ways in which collective reactions to events in LBSM can be described and underpin the development of methods for analysing and understanding collective reactions to events

An Automated Method to Enrich and Expand Consumer Health Vocabularies Using GloVe Word Embeddings

Clear language makes communication easier between any two parties. However, a layman may have difficulty communicating with a professional due to not understanding the specialized terms common to the domain. In healthcare, it is rare to find a layman knowledgeable in medical jargon, which can lead to poor understanding of their condition and/or treatment. To bridge this gap, several professional vocabularies and ontologies have been created to map laymen medical terms to professional medical terms and vice versa. Many of the presented vocabularies are built manually or semi-automatically requiring large investments of time and human effort and consequently the slow growth of these vocabularies. In this dissertation, we present an automatic method to enrich existing concepts in a medical ontology with additional laymen terms and also to expand the number of concepts in the ontology that do not have associated laymen terms. Our work has the benefit of being applicable to vocabularies in any domain. Our entirely automatic approach uses machine learning, specifically Global Vectors for Word Embeddings (GloVe), on a corpus collected from a social media healthcare platform to extend and enhance consumer health vocabularies. We improve these vocabularies by incorporating synonyms and hyponyms from the WordNet ontology. By performing iterative feedback using GloVe’s candidate terms, we can boost the number of word occurrences in the co-occurrence matrix allowing our approach to work with a smaller training corpus. Our novel algorithms and GloVe were evaluated using two laymen datasets from the National Library of Medicine (NLM), the Open-Access and Collaborative Consumer Health Vocabulary (OAC CHV) and the MedlinePlus Healthcare Vocabulary. For our first goal, enriching concepts, the results show that GloVe was able to find new laymen terms with an F-score of 48.44%. Our best algorithm enhanced the corpus with synonyms from WordNet, outperformed GloVe with an F-score relative improvement of 25%. For our second goal, expanding the number of concepts with related laymen’s terms, our synonym-enhanced GloVe outperformed GloVe with a relative F-score relative improvement of 63%. The results of the system were in general promising and can be applied not only to enrich and expand laymen vocabularies for medicine but any ontology for a domain, given an appropriate corpus for the domain. Our approach is applicable to narrow domains that may not have the huge training corpora typically used with word embedding approaches. In essence, by incorporating an external source of linguistic information, WordNet, and expanding the training corpus, we are getting more out of our training corpus. Our system can help building an application for patients where they can read their physician\u27s letters more understandably and clearly. Moreover, the output of this system can be used to improve the results of healthcare search engines, entity recognition systems, and many others

Adverse drug reaction extraction on electronic health records written in Spanish

148 p.This work focuses on the automatic extraction of Adverse Drug Reactions (ADRs) in Electronic HealthRecords (EHRs). That is, extracting a response to a medicine which is noxious and unintended and whichoccurs at doses normally used. From Natural Language Processing (NLP) perspective, this wasapproached as a relation extraction task in which the drug is the causative agent of a disease, sign orsymptom, that is, the adverse reaction.ADR extraction from EHRs involves major challenges. First, ADRs are rare events. That is, relationsbetween drugs and diseases found in an EHR are seldom ADRs (are often unrelated or, instead, related astreatment). This implies the inference from samples with skewed class distribution. Second, EHRs arewritten by experts often under time pressure, employing both rich medical jargon together with colloquialexpressions (not always grammatical) and it is not infrequent to find misspells and both standard andnon-standard abbreviations. All this leads to a high lexical variability.We explored several ADR detection algorithms and representations to characterize the ADR candidates.In addition, we have assessed the tolerance of the ADR detection model to external noise such as theincorrect detection of implied medical entities implied in the ADR extraction, i.e. drugs and diseases. Westtled the first steps on ADR extraction in Spanish using a corpus of real EHRs

Data mining in biomedicine : current applications and further directions for research

Author name used in this manuscript: S. K. KwokAuthor name used in this manuscript: A. H. C. Tsang2009-2010 > Academic research: refereed > Publication in refereed journalAccepted ManuscriptPublishe