Using contextual and lexical features to restructure and validate the classification of biomedical concepts

Background: Biomedical ontologies are critical for integration of data from diverse sources and for use by knowledge-based biomedical applications, especially natural language processing as well as associated mining and reasoning systems. The effectiveness of these systems is heavily dependent on the quality of the ontological terms and their classifications. To assist in developing and maintaining the ontologies objectively, we propose automatic approaches to classify and/or validate their semantic categories. In previous work, we developed an approach using contextual syntactic features obtained from a large domain corpus to reclassify and validate concepts of the Unified Medical Language System (UMLS), a comprehensive resource of biomedical terminology. In this paper, we introduce another classification approach based on words of the concept strings and compare it to the contextual syntactic approach. Results: The string-based approach achieved an error rate of 0.143, with a mean reciprocal rank of 0.907. The context-based and string-based approaches were found to be complementary, and the error rate was reduced further by applying a linear combination of the two classifiers. The advantage of combining the two approaches was especially manifested on test data with sufficient contextual features, achieving the lowest error rate of 0.055 and a mean reciprocal rank of 0.969. Conclusion: The lexical features provide another semantic dimension in addition to syntactic contextual features that support the classification of ontological concepts. The classification errors of each dimension can be further reduced through appropriate combination of the complementary classifiers

Multi-Ontology Refined Embeddings (MORE): A Hybrid Multi-Ontology and Corpus-based Semantic Representation for Biomedical Concepts

Objective: Currently, a major limitation for natural language processing (NLP) analyses in clinical applications is that a concept can be referenced in various forms across different texts. This paper introduces Multi-Ontology Refined Embeddings (MORE), a novel hybrid framework for incorporating domain knowledge from various ontologies into a distributional semantic model, learned from a corpus of clinical text. This approach generates word embeddings that are more accurate and extensible for computing the semantic similarity of biomedical concepts than previous methods. Materials and Methods: We use the RadCore and MIMIC-III free-text datasets for the corpus-based component of MORE. For the ontology-based component, we use the Medical Subject Headings (MeSH) ontology and two state-of-the-art ontology-based similarity measures. In our approach, we propose a new learning objective, modified from the Sigmoid cross-entropy objective function, to incorporate domain knowledge into the process for generating the word embeddings. Results and Discussion: We evaluate the quality of the generated word embeddings using an established dataset of semantic similarities among biomedical concept pairs. We show that the similarity scores produced by MORE have the highest average correlation (60.2%), with the similarity scores being established by multiple physicians and domain experts, which is 4.3% higher than that of the word2vec baseline model and 6.8% higher than that of the best ontology-based similarity measure. Conclusion: MORE incorporates knowledge from biomedical ontologies into an existing distributional semantics model (i.e. word2vec), improving both the flexibility and accuracy of the learned word embeddings. We demonstrate that MORE outperforms the baseline word2vec model, as well as the individual UMLS-Similarity ontology similarity measures

Semantic reclassification of the UMLS concepts

Summary: Accurate semantic classification is valuable for text mining and knowledge-based tasks that perform inference based on semantic classes. To benefit applications using the semantic classification of the Unified Medical Language System (UMLS) concepts, we automatically reclassified the concepts based on their lexical and contextual features. The new classification is useful for auditing the original UMLS semantic classification and for building biomedical text mining applications

Efficiently Reusing Natural Language Processing Models for Phenotype Identification in Free-text Electronic Medical Records: Methodological Study

Background: Many efforts have been put into the use of automated approaches, such as natural language processing (NLP), to mine or extract data from free-text medical records to construct comprehensive patient profiles for delivering better health-care. Reusing NLP models in new settings, however, remains cumbersome - requiring validation and/or retraining on new data iteratively to achieve convergent results. Objective: The aim of this work is to minimise the effort involved in reusing NLP models on free-text medical records. Methods: We formally define and analyse the model adaptation problem in phenotype identification tasks. We identify “duplicate waste” and “imbalance waste”, which collectively impede efficient model reuse. We propose a concept embedding based approach to minimise these sources of waste without the need for labelled data from new settings. Results: We conduct experiments on data from a large mental health registry to reuse NLP models in four phenotype identification tasks. The proposed approach can choose the best model for a new task, identifying up to 76% of phenotype mentions without the need for validation and model retraining, and with very good performance (93-97% accuracy). It can also provide guidance for validating and retraining the selected model for novel language patterns in new tasks, saving around 80% of the effort required in “blind” model-adaptation approaches. Conclusions: Adapting pre-trained NLP models for new tasks can be more efficient and effective if the language pattern landscapes of old settings and new settings can be made explicit and comparable. Our experiments show that the phenotype embedding approach is an effective way to model language patterns for phenotype identification tasks and that its use can guide efficient NLP model reuse

Ontologies and Information Extraction

This report argues that, even in the simplest cases, IE is an ontology-driven process. It is not a mere text filtering method based on simple pattern matching and keywords, because the extracted pieces of texts are interpreted with respect to a predefined partial domain model. This report shows that depending on the nature and the depth of the interpretation to be done for extracting the information, more or less knowledge must be involved. This report is mainly illustrated in biology, a domain in which there are critical needs for content-based exploration of the scientific literature and which becomes a major application domain for IE

Enhancing the interactivity of a clinical decision support system by using knowledge engineering and natural language processing

Mental illness is a serious health problem and it affects many people. Increasingly,Clinical Decision Support Systems (CDSS) are being used for diagnosis and it is important to improve the reliability and performance of these systems. Missing a potential clue or a wrong diagnosis can have a detrimental effect on the patient's quality of life and could lead to a fatal outcome. The context of this research is the Galatean Risk and Safety Tool (GRiST), a mental-health-risk assessment system. Previous research has shown that success of a CDSS depends on its ease of use, reliability and interactivity. This research addresses these concerns for the GRiST by deploying data mining techniques. Clinical narratives and numerical data have both been analysed for this purpose.Clinical narratives have been processed by natural language processing (NLP)technology to extract knowledge from them. SNOMED-CT was used as a reference ontology and the performance of the different extraction algorithms have been compared. A new Ensemble Concept Mining (ECM) method has been proposed, which may eliminate the need for domain specific phrase annotation requirements. Word embedding has been used to filter phrases semantically and to build a semantic representation of each of the GRiST ontology nodes.The Chi-square and FP-growth methods have been used to find relationships between GRiST ontology nodes. Interesting patterns have been found that could be used to provide real-time feedback to clinicians. Information gain has been used efficaciously to explain the differences between the clinicians and the consensus risk. A new risk management strategy has been explored by analysing repeat assessments. A few novel methods have been proposed to perform automatic background analysis of the patient data and improve the interactivity and reliability of GRiST and similar systems

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