MetaMap versus BERT models with explainable active learning: ontology-based experiments with prior knowledge for COVID-19

Emergence of the Coronavirus 2019 Disease has highlighted further the need for timely support for clinicians as they manage severely ill patients. We combine Semantic Web technologies with Deep Learning for Natural Language Processing with the aim of converting human-readable best evi-dence/practice for COVID-19 into that which is computer-interpretable. We present the results of experiments with 1212 clinical ideas (medical terms and expressions) from two UK national healthcare services specialty guides for COVID-19 and three versions of two BMJ Best Practice documents for COVID-19. The paper seeks to recognise and categorise clinical ideas, performing a Named Entity Recognition (NER) task, with an ontology providing extra terms as context and describing the intended meaning of categories understandable by clinicians. The paper investigates: 1) the performance of classical NER using MetaMap versus NER with fine-tuned BERT models; 2) the integration of both NER approaches using a lightweight ontology developed in close collaboration with senior doctors; and 3) the easy interpretation by junior doctors of the main classes from the ontology once populated with NER results. We report the NER performance and the observed agreement for human audits

MetaMap versus BERT models with explainable active learning: ontology-based experiments with prior knowledge for COVID-19

Emergence of the Coronavirus 2019 Disease has highlighted further the need for timely support for clinicians as they manage severely ill patients. We combine Semantic Web technologies with Deep Learning for Natural Language Processing with the aim of converting human-readable best evi-dence/practice for COVID-19 into that which is computer-interpretable. We present the results of experiments with 1212 clinical ideas (medical terms and expressions) from two UK national healthcare services specialty guides for COVID-19 and three versions of two BMJ Best Practice documents for COVID-19. The paper seeks to recognise and categorise clinical ideas, performing a Named Entity Recognition (NER) task, with an ontology providing extra terms as context and describing the intended meaning of categories understandable by clinicians. The paper investigates: 1) the performance of classical NER using MetaMap versus NER with fine-tuned BERT models; 2) the integration of both NER approaches using a lightweight ontology developed in close collaboration with senior doctors; and 3) the easy interpretation by junior doctors of the main classes from the ontology once populated with NER results. We report the NER performance and the observed agreement for human audits

Enabling reasoning on the web: Performing simulations of clinical situations

The transformation of a document-based medical guideline into a computer-based decision support is a time-consuming and error-prone activity. One way to alleviate this burden is by facilitating, as much as possible, the (semi)automatic implementation and further validation of the knowledge intensive tasks embedded within medical guidelines. This paper presents a bilingual (English and Spanish) “proof of concept” simulation framework and computational test-bed, called V.A.F. Framework, that takes advantages of both CommonKADS methodology and Semantic Web technologies (OWL, SWRL, and OWL-S) to enable experiments (simulations of clinical situations) that allow overcoming the main barriers to successfully express medical guidelines in an executable form compatible with Electronic Medical Records (EMRs).To demonstrate how higher integration between EMRs and evidence-based medicine can be accomplished, this paper focuses on the “Acute Red Eye”, a clinical ophthalmologic domain known by General Practitioners (GPs) that usually requires the intervention of ophthalmologists (specialised physicians), so medical referral guidelines as well as ophthalmology medical guidelines need to be codified and integrated with EMRs

Text mining for disease surveillance in veterinary clinical data: part one, the language of veterinary clinical records and searching for words

The development of natural language processing techniques for deriving useful information from unstructured clinical narratives is a fast-paced and rapidly evolving area of machine learning research. Large volumes of veterinary clinical narratives now exist curated by projects such as the Small Animal Veterinary Surveillance Network (SAVSNET) and VetCompass, and the application of such techniques to these datasets is already (and will continue to) improve our understanding of disease and disease patterns within veterinary medicine. In part one of this two part article series, we discuss the importance of understanding the lexical structure of clinical records and discuss the use of basic tools for filtering records based on key words and more complex rule based pattern matching approaches. We discuss the strengths and weaknesses of these approaches highlighting the on-going potential value in using these “traditional” approaches but ultimately recognizing that these approaches constrain how effectively information retrieval can be automated. This sets the scene for the introduction of machine-learning methodologies and the plethora of opportunities for automation of information extraction these present which is discussed in part two of the series.</jats:p

PreMedOnto: A Computer Assisted Ontology for Precision Medicine

This paper proposes an ontology learning framework that combines text mining, information extraction and retrieval. The proposed model takes advantage of existing structured knowledge by reusing terms and concepts from other ontologies. We further apply the methodology to create a detailed ontology for the emerging precision medicine (PM) domain by collecting a corpus of relevant articles and mapping its frequent terms to existing concepts. The resulting ontology consists of 543 annotated classes. The ontology was also tested for effectiveness by applying two evaluation frameworks to validate its design and quality. The results demonstrate that the ontology learning system is able to capture and represent the semantics of the PM domain with high precision and significance. Moreover, the computer-assisted construction process reduced dependency on expert knowledge. The developed PreMedOnto ontology could be further used to enhance the potentials of other NLP applications in the PM domain

Deep learning meets ontologies : experiments to anchor the cardiovascular disease ontology in the biomedical literature

Background Automatic identification of term variants or acceptable alternative free-text terms for gene and protein names from the millions of biomedical publications is a challenging task. Ontologies, such as the Cardiovascular Disease Ontology (CVDO), capture domain knowledge in a computational form and can provide context for gene/protein names as written in the literature. This study investigates: 1) if word embeddings from Deep Learning algorithms can provide a list of term variants for a given gene/protein of interest; and 2) if biological knowledge from the CVDO can improve such a list without modifying the word embeddings created. Methods We have manually annotated 105 gene/protein names from 25 PubMed titles/abstracts and mapped them to 79 unique UniProtKB entries corresponding to gene and protein classes from the CVDO. Using more than 14m PubMed articles (titles and available abstracts), word embeddings were generated with CBOW and Skip-gram. We setup two experiments for a synonym detection task, each with four raters, and 3,672 pairs of terms (target term and candidate term) from the word embeddings created. For Experiment I, the target terms for 64 UniProtKB entries were those that appear in the titles/abstracts; Experiment II involves 63 UniProtKB entries and the target terms are a combination of terms from PubMed titles/abstracts with terms (i.e. increased context) from the CVDO protein class expressions and labels. Results In Experiment I, Skip-gram finds term variants (full and/or partial) for 89% of the 64 UniProtKB entries, while CBOW finds term variants for 67%. In Experiment II (with the aid of the CVDO), Skip-gram finds term variants for 95% of the 63 UniProtKB entries, while CBOW finds term variants for 78%. Combining the results of both experiments, Skip-gram finds term variants for 97% of the 79 UniProtKB entries, while CBOW finds term variants for 81%. Conclusions This study shows performance improvements for both CBOW and Skip-gram on a gene/protein synonym detection task by adding knowledge formalised in the CVDO and without modifying the word embeddings created. Hence, the CVDO supplies context that is effective in inducing term variability for both CBOW and Skip-gram while reducing ambiguity. Skip-gram outperforms CBOW and finds more pertinent term variants for gene/protein names annotated from the scientific literature. Keywords: Semantic deep learningOntologyDeep learningCBOWSkip-gramCardiovascular disease ontologyPubMe