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

Leveraging Knowledge-Based Approaches to Promote Antiretroviral Toxicity Monitoring in Underserved Settings

As access and use of antiretroviral therapy continue to increase, the need to improve antiretroviral toxicity monitoring becomes more critical. This is particularly so in underserved settings, where patterns of antiretroviral toxicities possibly alter the need for and frequency of antiretroviral toxicity monitoring. However, barriers such as few skilled healthcare providers and poor infrastructure make antiretroviral toxicity monitoring in underserved settings difficult. The purpose of this dissertation was to investigate how standard clinical guidelines, knowledge-based clinical decision support, and task delegation could be leveraged to overcome barriers to antiretroviral toxicity monitoring in underserved settings. The strategy adopted in this dissertation was guided by the Design Science Research Methodology that emphasizes the generation of scientific knowledge through building novel artifacts. Two qualitative descriptive studies were conducted to characterize the contextual factors associated with antiretroviral toxicity monitoring in underserved settings. Supported by the findings from these studies, a knowledge-based software application prototype that implements clinical practice guidelines for antiretroviral toxicity monitoring was developed. Next, a quantitative validation study was used to evaluate the structure and behavior of the prototype’s knowledge base. Lastly, a quantitative usability study was conducted to assess lay health worker perceptions of the satisfaction and mental effort associated with the use of checklists generated by the prototype. This dissertation research produced empirical evidence about the broad motives and strategies for promoting medication adherence, safety, and effectiveness in underserved settings. It also identified barriers and facilitators of antiretroviral toxicity monitoring within ambulatory HIV care workflows in underserved settings. Additionally, it provided evidence about the extent to which antiretroviral toxicity domain knowledge could be implemented in a knowledge-based application for supporting point-of-care antiretroviral toxicity monitoring. Lastly, the research provided previously unavailable empirical evidence about the perceptions of lay peer health workers on the use of checklists for the documentation of antiretroviral toxicities

Research in the Language, Information and Computation Laboratory of the University of Pennsylvania

This report takes its name from the Computational Linguistics Feedback Forum (CLiFF), an informal discussion group for students and faculty. However the scope of the research covered in this report is broader than the title might suggest; this is the yearly report of the LINC Lab, the Language, Information and Computation Laboratory of the University of Pennsylvania. It may at first be hard to see the threads that bind together the work presented here, work by faculty, graduate students and postdocs in the Computer Science and Linguistics Departments, and the Institute for Research in Cognitive Science. It includes prototypical Natural Language fields such as: Combinatorial Categorial Grammars, Tree Adjoining Grammars, syntactic parsing and the syntax-semantics interface; but it extends to statistical methods, plan inference, instruction understanding, intonation, causal reasoning, free word order languages, geometric reasoning, medical informatics, connectionism, and language acquisition. Naturally, this introduction cannot spell out all the connections between these abstracts; we invite you to explore them on your own. In fact, with this issue it’s easier than ever to do so: this document is accessible on the “information superhighway”. Just call up http://www.cis.upenn.edu/~cliff-group/94/cliffnotes.html In addition, you can find many of the papers referenced in the CLiFF Notes on the net. Most can be obtained by following links from the authors’ abstracts in the web version of this report. The abstracts describe the researchers’ many areas of investigation, explain their shared concerns, and present some interesting work in Cognitive Science. We hope its new online format makes the CLiFF Notes a more useful and interesting guide to Computational Linguistics activity at Penn

A Survey on Semantic Processing Techniques

Semantic processing is a fundamental research domain in computational linguistics. In the era of powerful pre-trained language models and large language models, the advancement of research in this domain appears to be decelerating. However, the study of semantics is multi-dimensional in linguistics. The research depth and breadth of computational semantic processing can be largely improved with new technologies. In this survey, we analyzed five semantic processing tasks, e.g., word sense disambiguation, anaphora resolution, named entity recognition, concept extraction, and subjectivity detection. We study relevant theoretical research in these fields, advanced methods, and downstream applications. We connect the surveyed tasks with downstream applications because this may inspire future scholars to fuse these low-level semantic processing tasks with high-level natural language processing tasks. The review of theoretical research may also inspire new tasks and technologies in the semantic processing domain. Finally, we compare the different semantic processing techniques and summarize their technical trends, application trends, and future directions.Comment: Published at Information Fusion, Volume 101, 2024, 101988, ISSN 1566-2535. The equal contribution mark is missed in the published version due to the publication policies. Please contact Prof. Erik Cambria for detail

31th International Conference on Information Modelling and Knowledge Bases

Information modelling is becoming more and more important topic for researchers, designers, and users of information systems.The amount and complexity of information itself, the number of abstractionlevels of information, and the size of databases and knowledge bases arecontinuously growing. Conceptual modelling is one of the sub-areas ofinformation modelling. The aim of this conference is to bring together experts from different areas of computer science and other disciplines, who have a common interest in understanding and solving problems on information modelling and knowledge bases, as well as applying the results of research to practice. We also aim to recognize and study new areas on modelling and knowledge bases to which more attention should be paid. Therefore philosophy and logic, cognitive science, knowledge management, linguistics and management science are relevant areas, too. In the conference, there will be three categories of presentations, i.e. full papers, short papers and position papers

Comparing Attributional and Relational Similarity as a Means to Identify Clinically Relevant Drug-gene Relationships

In emerging domains, such as precision oncology, knowledge extracted from explicit assertions may be insufficient to identify relationships of interest. One solution to this problem involves drawing inference on the basis of similarity. Computational methods have been developed to estimate the semantic similarity and relatedness between terms and relationships that are distributed across corpora of literature such as Medline abstracts and other forms of human readable text. Most research on distributional similarity has focused on the notion of attributional similarity, which estimates the similarity between entities based on the contexts in which they occur across a large corpus. A relatively under-researched area concerns relational similarity, in which the similarity between pairs of entities is estimated from the contexts in which these entity pairs occur together. While it seems intuitive that models capturing the structure of the relationships between entities might mediate the identification of biologically important relationships, there is to date no comparison of the relative utility of attributional and relational models for this purpose. In this research, I compare the performance of a range of relational and attributional similarity methods, on the task of identifying drugs that may be therapeutically useful in the context of particular aberrant genes, as identified by a team of human experts. My hypothesis is that relational similarity will be of greater utility than attributional similarity as a means to identify biological relationships that may provide answers to clinical questions, (such as “which drugs INHIBIT gene x”?) in the context of rapidly evolving domains. My results show that models based on relational similarity outperformed models based on attributional similarity on this task. As the methods explained in this research can be applied to identify any sort of relationship for which cue pairs exist, my results suggest that relational similarity may be a suitable approach to apply to other biomedical problems. Furthermore, I found models based on neural word embeddings (NWE) to be particularly useful for this task, given their higher performance than Random Indexing-based models, and significantly less computational effort needed to create them. NWE methods (such as those produced by the popular word2vec tool) are a relatively recent development in the domain of distributional semantics, and are considered by many as the state-of-the-art when it comes to semantic language modeling. However, their application in identifying biologically important relationships from Medline in general, and specifically, in the domain of precision oncology has not been well studied. The results of this research can guide the design and implementation of biomedical question answering and other relationship extraction applications for precision medicine, precision oncology and other similar domains, where there is rapid emergence of novel knowledge. The methods developed and evaluated in this project can help NLP applications provide more accurate results by leveraging corpus based methods that are by design scalable and robust

Distributional Semantic Models for Clinical Text Applied to Health Record Summarization

As information systems in the health sector are becoming increasingly computerized, large amounts of care-related information are being stored electronically. In hospitals clinicians continuously document treatment and care given to patients in electronic health record (EHR) systems. Much of the information being documented is in the form of clinical notes, or narratives, containing primarily unstructured free-text information. For each care episode, clinical notes are written on a regular basis, ending with a discharge summary that basically summarizes the care episode. Although EHR systems are helpful for storing and managing such information, there is an unrealized potential in utilizing this information for smarter care assistance, as well as for secondary purposes such as research and education. Advances in clinical language processing are enabling computers to assist clinicians in their interaction with the free-text information documented in EHR systems. This includes assisting in tasks like query-based search, terminology development, knowledge extraction, translation, and summarization. This thesis explores various computerized approaches and methods aimed at enabling automated semantic textual similarity assessment and information extraction based on the free-text information in EHR systems. The focus is placed on the task of (semi-)automated summarization of the clinical notes written during individual care episodes. The overall theme of the presented work is to utilize resource-light approaches and methods, circumventing the need to manually develop knowledge resources or training data. Thus, to enable computational semantic textual similarity assessment, word distribution statistics are derived from large training corpora of clinical free text and stored as vector-based representations referred to as distributional semantic models. Also resource-light methods are explored in the task of performing automatic summarization of clinical freetext information, relying on semantic textual similarity assessment. Novel and experimental methods are presented and evaluated that focus on: a) distributional semantic models trained in an unsupervised manner from statistical information derived from large unannotated clinical free-text corpora; b) representing and computing semantic similarities between linguistic items of different granularity, primarily words, sentences and clinical notes; and c) summarizing clinical free-text information from individual care episodes. Results are evaluated against gold standards that reflect human judgements. The results indicate that the use of distributional semantics is promising as a resource-light approach to automated capturing of semantic textual similarity relations from unannotated clinical text corpora. Here it is important that the semantics correlate with the clinical terminology, and with various semantic similarity assessment tasks. Improvements over classical approaches are achieved when the underlying vector-based representations allow for a broader range of semantic features to be captured and represented. These are either distributed over multiple semantic models trained with different features and training corpora, or use models that store multiple sense-vectors per word. Further, the use of structured meta-level information accompanying care episodes is explored as training features for distributional semantic models, with the aim of capturing semantic relations suitable for care episode-level information retrieval. Results indicate that such models performs well in clinical information retrieval. It is shown that a method called Random Indexing can be modified to construct distributional semantic models that capture multiple sense-vectors for each word in the training corpus. This is done in a way that retains the original training properties of the Random Indexing method, by being incremental, scalable and distributional. Distributional semantic models trained with a framework called Word2vec, which relies on the use of neural networks, outperform those trained using the classic Random Indexing method in several semantic similarity assessment tasks, when training is done using comparable parameters and the same training corpora. Finally, several statistical features in clinical text are explored in terms of their ability to indicate sentence significance in a text summary generated from the clinical notes. This includes the use of distributional semantics to enable case-based similarity assessment, where cases are other care episodes and their “solutions”, i.e., discharge summaries. A type of manual evaluation is performed, where human experts rates the different aspects of the summaries using a evaluation scheme/tool. In addition, the original clinician-written discharge summaries are explored as gold standard for the purpose of automated evaluation. Evaluation shows a high correlation between manual and automated evaluation, suggesting that such a gold standard can function as a proxy for human evaluations. --- This thesis has been published jointly with Norwegian University of Science and Technology, Norway and University of Turku, Finland.This thesis has beenpublished jointly with Norwegian University of Science and Technology, Norway.Siirretty Doriast