Journal Of Biomedical Semantics[JOURNAL]
Sun
200 papers
Data management plans as linked open data: exploiting ARGOS FAIR and machine actionable outputs in the OpenAIRE research graph.
Papadopoulou E, Bardi A, Kakaletris G … +3 more , Tziotzios D, Manghi P, Manola N
J Biomed Semantics · 2023 Nov · PMID 37919767 · Full text
BACKGROUND: Open Science Graphs (OSGs) are scientific knowledge graphs representing different entities of the research lifecycle (e.g. projects, people, research outcomes, institutions) and the relationships among them....
BACKGROUND: Open Science Graphs (OSGs) are scientific knowledge graphs representing different entities of the research lifecycle (e.g. projects, people, research outcomes, institutions) and the relationships among them. They present a contextualized view of current research that supports discovery, re-use, reproducibility, monitoring, transparency and omni-comprehensive assessment. A Data Management Plan (DMP) contains information concerning both the research processes and the data collected, generated and/or re-used during a project's lifetime. Automated solutions and workflows that connect DMPs with the actual data and other contextual information (e.g., publications, fundings) are missing from the landscape. DMPs being submitted as deliverables also limit their findability. In an open and FAIR-enabling research ecosystem information linking between research processes and research outputs is essential. ARGOS tool for FAIR data management contributes to the OpenAIRE Research Graph (RG) and utilises its underlying services and trusted sources to progressively automate validation and automations of Research Data Management (RDM) practices. RESULTS: A comparative analysis was conducted between the data models of ARGOS and OpenAIRE Research Graph against the DMP Common Standard. Following this, we extended ARGOS with export format converters and semantic tagging, and the OpenAIRE RG with a DMP entity and semantics between existing entities and relationships. This enabled the integration of ARGOS machine actionable DMPs (ma-DMPs) to the OpenAIRE OSG, enriching and exposing DMPs as FAIR outputs. CONCLUSIONS: This paper, to our knowledge, is the first to introduce exposing ma-DMPs in OSGs and making the link between OSGs and DMPs, introducing the latter as entities in the research lifecycle. Further, it provides insight to ARGOS DMP service interoperability practices and integrations to populate the OpenAIRE Research Graph with DMP entities and relationships and strengthen both FAIRness of outputs as well as information exchange in a standard way.
Context-based refinement of mappings in evolving life science ontologies.
Yamamoto VE, Destro JM, Dos Reis JC
J Biomed Semantics · 2023 Oct · PMID 37858211 · Full text
BACKGROUND: Biomedical computational systems benefit from ontologies and their associated mappings. Indeed, aligned ontologies in life sciences play a central role in several semantic-enabled tasks, especially in data ex...
BACKGROUND: Biomedical computational systems benefit from ontologies and their associated mappings. Indeed, aligned ontologies in life sciences play a central role in several semantic-enabled tasks, especially in data exchange. It is crucial to maintain up-to-date alignments according to new knowledge inserted in novel ontology releases. Refining ontology mappings in place, based on adding concepts, demands further research. RESULTS: This article studies the mapping refinement phenomenon by proposing techniques to refine a set of established mappings based on the evolution of biomedical ontologies. In our first analysis, we investigate ways of suggesting correspondences with the new ontology version without applying a matching operation to the whole set of ontology entities. In the second analysis, the refinement technique enables deriving new mappings and updating the semantic type of the mapping beyond equivalence. Our study explores the neighborhood of concepts in the alignment process to refine mapping sets. CONCLUSION: Experimental evaluations with several versions of aligned biomedical ontologies were conducted. Those experiments demonstrated the usefulness of ontology evolution changes to support the process of mapping refinement. Furthermore, using context in ontological concepts was effective in our techniques.
Analysis and implementation of the DynDiff tool when comparing versions of ontology.
Diaz Benavides S, Cardoso SD, Da Silveira M … +1 more , Pruski C
J Biomed Semantics · 2023 Sep · PMID 37770956 · Full text
BACKGROUND: Ontologies play a key role in the management of medical knowledge because they have the properties to support a wide range of knowledge-intensive tasks. The dynamic nature of knowledge requires frequent chang...
BACKGROUND: Ontologies play a key role in the management of medical knowledge because they have the properties to support a wide range of knowledge-intensive tasks. The dynamic nature of knowledge requires frequent changes to the ontologies to keep them up-to-date. The challenge is to understand and manage these changes and their impact on depending systems well in order to handle the growing volume of data annotated with ontologies and the limited documentation describing the changes. METHODS: We present a method to detect and characterize the changes occurring between different versions of an ontology together with an ontology of changes entitled DynDiffOnto, designed according to Semantic Web best practices and FAIR principles. We further describe the implementation of the method and the evaluation of the tool with different ontologies from the biomedical domain (i.e. ICD9-CM, MeSH, NCIt, SNOMEDCT, GO, IOBC and CIDO), showing its performance in terms of time execution and capacity to classify ontological changes, compared with other state-of-the-art approaches. RESULTS: The experiments show a top-level performance of DynDiff for large ontologies and a good performance for smaller ones, with respect to execution time and capability to identify complex changes. In this paper, we further highlight the impact of ontology matchers on the diff computation and the possibility to parameterize the matcher in DynDiff, enabling the possibility of benefits from state-of-the-art matchers. CONCLUSION: DynDiff is an efficient tool to compute differences between ontology versions and classify these differences according to DynDiffOnto concepts. This work also contributes to a better understanding of ontological changes through DynDiffOnto, which was designed to express the semantics of the changes between versions of an ontology and can be used to document the evolution of an ontology.
Development and validation of the early warning system scores ontology.
Zayas CE, Whorton JM, Sexton KW … +3 more , Mabry CD, Dowland SC, Brochhausen M
J Biomed Semantics · 2023 Sep · PMID 37730667 · Full text
BACKGROUND: Clinical early warning scoring systems, have improved patient outcomes in a range of specializations and global contexts. These systems are used to predict patient deterioration. A multitude of patient-level...
BACKGROUND: Clinical early warning scoring systems, have improved patient outcomes in a range of specializations and global contexts. These systems are used to predict patient deterioration. A multitude of patient-level physiological decompensation data has been made available through the widespread integration of early warning scoring systems within EHRs across national and international health care organizations. These data can be used to promote secondary research. The diversity of early warning scoring systems and various EHR systems is one barrier to secondary analysis of early warning score data. Given that early warning score parameters are varied, this makes it difficult to query across providers and EHR systems. Moreover, mapping and merging the parameters is challenging. We develop and validate the Early Warning System Scores Ontology (EWSSO), representing three commonly used early warning scores: the National Early Warning Score (NEWS), the six-item modified Early Warning Score (MEWS), and the quick Sequential Organ Failure Assessment (qSOFA) to overcome these problems. METHODS: We apply the Software Development Lifecycle Framework-conceived by Winston Boyce in 1970-to model the activities involved in organizing, producing, and evaluating the EWSSO. We also follow OBO Foundry Principles and the principles of best practice for domain ontology design, terms, definitions, and classifications to meet BFO requirements for ontology building. RESULTS: We developed twenty-nine new classes, reused four classes and four object properties to create the EWSSO. When we queried the data our ontology-based process could differentiate between necessary and unnecessary features for score calculation 100% of the time. Further, our process applied the proper temperature conversions for the early warning score calculator 100% of the time. CONCLUSIONS: Using synthetic datasets, we demonstrate the EWSSO can be used to generate and query health system data on vital signs and provide input to calculate the NEWS, six-item MEWS, and qSOFA. Future work includes extending the EWSSO by introducing additional early warning scores for adult and pediatric patient populations and creating patient profiles that contain clinical, demographic, and outcomes data regarding the patient.
Automatic classification of experimental models in biomedical literature to support searching for alternative methods to animal experiments.
Neves M, Klippert A, Knöspel F … +12 more , Rudeck J, Stolz A, Ban Z, Becker M, Diederich K, Grune B, Kahnau P, Ohnesorge N, Pucher J, Schönfelder G, Bert B, Butzke D
J Biomed Semantics · 2023 Sep · PMID 37658458 · Full text
Current animal protection laws require replacement of animal experiments with alternative methods, whenever such methods are suitable to reach the intended scientific objective. However, searching for alternative methods...
Current animal protection laws require replacement of animal experiments with alternative methods, whenever such methods are suitable to reach the intended scientific objective. However, searching for alternative methods in the scientific literature is a time-consuming task that requires careful screening of an enormously large number of experimental biomedical publications. The identification of potentially relevant methods, e.g. organ or cell culture models, or computer simulations, can be supported with text mining tools specifically built for this purpose. Such tools are trained (or fine tuned) on relevant data sets labeled by human experts. We developed the GoldHamster corpus, composed of 1,600 PubMed (Medline) articles (titles and abstracts), in which we manually identified the used experimental model according to a set of eight labels, namely: "in vivo", "organs", "primary cells", "immortal cell lines", "invertebrates", "humans", "in silico" and "other" (models). We recruited 13 annotators with expertise in the biomedical domain and assigned each article to two individuals. Four additional rounds of annotation aimed at improving the quality of the annotations with disagreements in the first round. Furthermore, we conducted various machine learning experiments based on supervised learning to evaluate the corpus for our classification task. We obtained more than 7,000 document-level annotations for the above labels. After the first round of annotation, the inter-annotator agreement (kappa coefficient) varied among labels, and ranged from 0.42 (for "others") to 0.82 (for "invertebrates"), with an overall score of 0.62. All disagreements were resolved in the subsequent rounds of annotation. The best-performing machine learning experiment used the PubMedBERT pre-trained model with fine-tuning to our corpus, which gained an overall f-score of 0.83. We obtained a corpus with high agreement for all labels, and our evaluation demonstrated that our corpus is suitable for training reliable predictive models for automatic classification of biomedical literature according to the used experimental models. Our SMAFIRA - "Smart feature-based interactive" - search tool ( https://smafira.bf3r.de ) will employ this classifier for supporting the retrieval of alternative methods to animal experiments. The corpus is available for download ( https://doi.org/10.5281/zenodo.7152295 ), as well as the source code ( https://github.com/mariananeves/goldhamster ) and the model ( https://huggingface.co/SMAFIRA/goldhamster ).
Automatic transparency evaluation for open knowledge extraction systems.
Basereh M, Caputo A, Brennan R
J Biomed Semantics · 2023 Aug · PMID 37653549 · Full text
BACKGROUND: This paper proposes Cyrus, a new transparency evaluation framework, for Open Knowledge Extraction (OKE) systems. Cyrus is based on the state-of-the-art transparency models and linked data quality assessment d...
BACKGROUND: This paper proposes Cyrus, a new transparency evaluation framework, for Open Knowledge Extraction (OKE) systems. Cyrus is based on the state-of-the-art transparency models and linked data quality assessment dimensions. It brings together a comprehensive view of transparency dimensions for OKE systems. The Cyrus framework is used to evaluate the transparency of three linked datasets, which are built from the same corpus by three state-of-the-art OKE systems. The evaluation is automatically performed using a combination of three state-of-the-art FAIRness (Findability, Accessibility, Interoperability, Reusability) assessment tools and a linked data quality evaluation framework, called Luzzu. This evaluation includes six Cyrus data transparency dimensions for which existing assessment tools could be identified. OKE systems extract structured knowledge from unstructured or semi-structured text in the form of linked data. These systems are fundamental components of advanced knowledge services. However, due to the lack of a transparency framework for OKE, most OKE systems are not transparent. This means that their processes and outcomes are not understandable and interpretable. A comprehensive framework sheds light on different aspects of transparency, allows comparison between the transparency of different systems by supporting the development of transparency scores, gives insight into the transparency weaknesses of the system, and ways to improve them. Automatic transparency evaluation helps with scalability and facilitates transparency assessment. The transparency problem has been identified as critical by the European Union Trustworthy Artificial Intelligence (AI) guidelines. In this paper, Cyrus provides the first comprehensive view of transparency dimensions for OKE systems by merging the perspectives of the FAccT (Fairness, Accountability, and Transparency), FAIR, and linked data quality research communities. RESULTS: In Cyrus, data transparency includes ten dimensions which are grouped in two categories. In this paper, six of these dimensions, i.e., provenance, interpretability, understandability, licensing, availability, interlinking have been evaluated automatically for three state-of-the-art OKE systems, using the state-of-the-art metrics and tools. Covid-on-the-Web is identified to have the highest mean transparency. CONCLUSIONS: This is the first research to study the transparency of OKE systems that provides a comprehensive set of transparency dimensions spanning ethics, trustworthy AI, and data quality approaches to transparency. It also demonstrates how to perform automated transparency evaluation that combines existing FAIRness and linked data quality assessment tools for the first time. We show that state-of-the-art OKE systems vary in the transparency of the linked data generated and that these differences can be automatically quantified leading to potential applications in trustworthy AI, compliance, data protection, data governance, and future OKE system design and testing.
Multi-domain knowledge graph embeddings for gene-disease association prediction.
Nunes S, Sousa RT, Pesquita C
J Biomed Semantics · 2023 Aug · PMID 37580835 · Full text
BACKGROUND: Predicting gene-disease associations typically requires exploring diverse sources of information as well as sophisticated computational approaches. Knowledge graph embeddings can help tackle these challenges...
BACKGROUND: Predicting gene-disease associations typically requires exploring diverse sources of information as well as sophisticated computational approaches. Knowledge graph embeddings can help tackle these challenges by creating representations of genes and diseases based on the scientific knowledge described in ontologies, which can then be explored by machine learning algorithms. However, state-of-the-art knowledge graph embeddings are produced over a single ontology or multiple but disconnected ones, ignoring the impact that considering multiple interconnected domains can have on complex tasks such as gene-disease association prediction. RESULTS: We propose a novel approach to predict gene-disease associations using rich semantic representations based on knowledge graph embeddings over multiple ontologies linked by logical definitions and compound ontology mappings. The experiments showed that considering richer knowledge graphs significantly improves gene-disease prediction and that different knowledge graph embeddings methods benefit more from distinct types of semantic richness. CONCLUSIONS: This work demonstrated the potential for knowledge graph embeddings across multiple and interconnected biomedical ontologies to support gene-disease prediction. It also paved the way for considering other ontologies or tackling other tasks where multiple perspectives over the data can be beneficial. All software and data are freely available.
An extension of the BioAssay Ontology to include pharmacokinetic/pharmacodynamic terminology for the enrichment of scientific workflows.
Penn S, Lomax J, Karlsson A … +5 more , Antonucci V, Zachmann CD, Kanza S, Schurer S, Turner J
J Biomed Semantics · 2023 Aug · PMID 37568227 · Full text
With the capacity to produce and record data electronically, Scientific research and the data associated with it have grown at an unprecedented rate. However, despite a decent amount of data now existing in an electronic...
With the capacity to produce and record data electronically, Scientific research and the data associated with it have grown at an unprecedented rate. However, despite a decent amount of data now existing in an electronic form, it is still common for scientific research to be recorded in an unstructured text format with inconsistent context (vocabularies) which vastly reduces the potential for direct intelligent analysis. Research has demonstrated that the use of semantic technologies such as ontologies to structure and enrich scientific data can greatly improve this potential. However, whilst there are many ontologies that can be used for this purpose, there is still a vast quantity of scientific terminology that does not have adequate semantic representation. A key area for expansion identified by the authors was the pharmacokinetic/pharmacodynamic (PK/PD) domain due to its high usage across many areas of Pharma. As such we have produced a set of these terms and other bioassay related terms to be incorporated into the BioAssay Ontology (BAO), which was identified as the most relevant ontology for this work. A number of use cases developed by experts in the field were used to demonstrate how these new ontology terms can be used, and to set the scene for the continuation of this work with a look to expanding this work out into further relevant domains. The work done in this paper was part of Phase 1 of the SEED project (Semantically Enriching electronic laboratory notebook (eLN) Data).
Improving the classification of cardinality phenotypes using collections.
Alghamdi SM, Hoehndorf R
J Biomed Semantics · 2023 Aug · PMID 37550716 · Full text
MOTIVATION: Phenotypes are observable characteristics of an organism and they can be highly variable. Information about phenotypes is collected in a clinical context to characterize disease, and is also collected in mode...
MOTIVATION: Phenotypes are observable characteristics of an organism and they can be highly variable. Information about phenotypes is collected in a clinical context to characterize disease, and is also collected in model organisms and stored in model organism databases where they are used to understand gene functions. Phenotype data is also used in computational data analysis and machine learning methods to provide novel insights into disease mechanisms and support personalized diagnosis of disease. For mammalian organisms and in a clinical context, ontologies such as the Human Phenotype Ontology and the Mammalian Phenotype Ontology are widely used to formally and precisely describe phenotypes. We specifically analyze axioms pertaining to phenotypes of collections of entities within a body, and we find that some of the axioms in phenotype ontologies lead to inferences that may not accurately reflect the underlying biological phenomena. RESULTS: We reformulate the phenotypes of collections of entities using an ontological theory of collections. By reformulating phenotypes of collections in phenotypes ontologies, we avoid potentially incorrect inferences pertaining to the cardinality of these collections. We apply our method to two phenotype ontologies and show that the reformulation not only removes some problematic inferences but also quantitatively improves biological data analysis.
Semantically enabling clinical decision support recommendations.
Seneviratne O, Das AK, Chari S … +9 more , Agu NN, Rashid SM, McCusker J, Franklin JS, Qi M, Bennett KP, Chen CH, Hendler JA, McGuinness DL
J Biomed Semantics · 2023 Jul · PMID 37464259 · Full text
BACKGROUND: Clinical decision support systems have been widely deployed to guide healthcare decisions on patient diagnosis, treatment choices, and patient management through evidence-based recommendations. These recommen...
BACKGROUND: Clinical decision support systems have been widely deployed to guide healthcare decisions on patient diagnosis, treatment choices, and patient management through evidence-based recommendations. These recommendations are typically derived from clinical practice guidelines created by clinical specialties or healthcare organizations. Although there have been many different technical approaches to encoding guideline recommendations into decision support systems, much of the previous work has not focused on enabling system generated recommendations through the formalization of changes in a guideline, the provenance of a recommendation, and applicability of the evidence. Prior work indicates that healthcare providers may not find that guideline-derived recommendations always meet their needs for reasons such as lack of relevance, transparency, time pressure, and applicability to their clinical practice. RESULTS: We introduce several semantic techniques that model diseases based on clinical practice guidelines, provenance of the guidelines, and the study cohorts they are based on to enhance the capabilities of clinical decision support systems. We have explored ways to enable clinical decision support systems with semantic technologies that can represent and link to details in related items from the scientific literature and quickly adapt to changing information from the guidelines, identifying gaps, and supporting personalized explanations. Previous semantics-driven clinical decision systems have limited support in all these aspects, and we present the ontologies and semantic web based software tools in three distinct areas that are unified using a standard set of ontologies and a custom-built knowledge graph framework: (i) guideline modeling to characterize diseases, (ii) guideline provenance to attach evidence to treatment decisions from authoritative sources, and (iii) study cohort modeling to identify relevant research publications for complicated patients. CONCLUSIONS: We have enhanced existing, evidence-based knowledge by developing ontologies and software that enables clinicians to conveniently access updates to and provenance of guidelines, as well as gather additional information from research studies applicable to their patients' unique circumstances. Our software solutions leverage many well-used existing biomedical ontologies and build upon decades of knowledge representation and reasoning work, leading to explainable results.
FAIR-Checker: supporting digital resource findability and reuse with Knowledge Graphs and Semantic Web standards.
Gaignard A, Rosnet T, De Lamotte F … +2 more , Lefort V, Devignes MD
J Biomed Semantics · 2023 Jul · PMID 37393296 · Full text
The current rise of Open Science and Reproducibility in the Life Sciences requires the creation of rich, machine-actionable metadata in order to better share and reuse biological digital resources such as datasets, bioin...
The current rise of Open Science and Reproducibility in the Life Sciences requires the creation of rich, machine-actionable metadata in order to better share and reuse biological digital resources such as datasets, bioinformatics tools, training materials, etc. For this purpose, FAIR principles have been defined for both data and metadata and adopted by large communities, leading to the definition of specific metrics. However, automatic FAIRness assessment is still difficult because computational evaluations frequently require technical expertise and can be time-consuming. As a first step to address these issues, we propose FAIR-Checker, a web-based tool to assess the FAIRness of metadata presented by digital resources. FAIR-Checker offers two main facets: a "Check" module providing a thorough metadata evaluation and recommendations, and an "Inspect" module which assists users in improving metadata quality and therefore the FAIRness of their resource. FAIR-Checker leverages Semantic Web standards and technologies such as SPARQL queries and SHACL constraints to automatically assess FAIR metrics. Users are notified of missing, necessary, or recommended metadata for various resource categories. We evaluate FAIR-Checker in the context of improving the FAIRification of individual resources, through better metadata, as well as analyzing the FAIRness of more than 25 thousand bioinformatics software descriptions.
Features of a FAIR vocabulary.
Xu F, Juty N, Goble C … +3 more , Jupp S, Parkinson H, Courtot M
J Biomed Semantics · 2023 Jun · PMID 37264430 · Full text
BACKGROUND: The Findable, Accessible, Interoperable and Reusable(FAIR) Principles explicitly require the use of FAIR vocabularies, but what precisely constitutes a FAIR vocabulary remains unclear. Being able to define FA...
BACKGROUND: The Findable, Accessible, Interoperable and Reusable(FAIR) Principles explicitly require the use of FAIR vocabularies, but what precisely constitutes a FAIR vocabulary remains unclear. Being able to define FAIR vocabularies, identify features of FAIR vocabularies, and provide assessment approaches against the features can guide the development of vocabularies. RESULTS: We differentiate data, data resources and vocabularies used for FAIR, examine the application of the FAIR Principles to vocabularies, align their requirements with the Open Biomedical Ontologies principles, and propose FAIR Vocabulary Features. We also design assessment approaches for FAIR vocabularies by mapping the FVFs with existing FAIR assessment indicators. Finally, we demonstrate how they can be used for evaluating and improving vocabularies using exemplary biomedical vocabularies. CONCLUSIONS: Our work proposes features of FAIR vocabularies and corresponding indicators for assessing the FAIR levels of different types of vocabularies, identifies use cases for vocabulary engineers, and guides the evolution of vocabularies.
Multiple sampling schemes and deep learning improve active learning performance in drug-drug interaction information retrieval analysis from the literature.
Xie W, Fan K, Zhang S … +1 more , Li L
J Biomed Semantics · 2023 May · PMID 37248476 · Full text
BACKGROUND: Drug-drug interaction (DDI) information retrieval (IR) is an important natural language process (NLP) task from the PubMed literature. For the first time, active learning (AL) is studied in DDI IR analysis. D...
BACKGROUND: Drug-drug interaction (DDI) information retrieval (IR) is an important natural language process (NLP) task from the PubMed literature. For the first time, active learning (AL) is studied in DDI IR analysis. DDI IR analysis from PubMed abstracts faces the challenges of relatively small positive DDI samples among overwhelmingly large negative samples. Random negative sampling and positive sampling are purposely designed to improve the efficiency of AL analysis. The consistency of random negative sampling and positive sampling is shown in the paper. RESULTS: PubMed abstracts are divided into two pools. Screened pool contains all abstracts that pass the DDI keywords query in PubMed, while unscreened pool includes all the other abstracts. At a prespecified recall rate of 0.95, DDI IR analysis precision is evaluated and compared. In screened pool IR analysis using supporting vector machine (SVM), similarity sampling plus uncertainty sampling improves the precision over uncertainty sampling, from 0.89 to 0.92 respectively. In the unscreened pool IR analysis, the integrated random negative sampling, positive sampling, and similarity sampling improve the precision over uncertainty sampling along, from 0.72 to 0.81 respectively. When we change the SVM to a deep learning method, all sampling schemes consistently improve DDI AL analysis in both screened pool and unscreened pool. Deep learning has significant improvement of precision over SVM, 0.96 vs. 0.92 in screened pool, and 0.90 vs. 0.81 in the unscreened pool, respectively. CONCLUSIONS: By integrating various sampling schemes and deep learning algorithms into AL, the DDI IR analysis from literature is significantly improved. The random negative sampling and positive sampling are highly effective methods in improving AL analysis where the positive and negative samples are extremely imbalanced.
Constructing a knowledge graph for open government data: the case of Nova Scotia disease datasets.
Rajabi E, Midha R, de Souza JF
J Biomed Semantics · 2023 Apr · PMID 37072859 · Full text
The majority of available datasets in open government data are statistical. They are widely published by various governments to be used by the public and data consumers. However, most open government data portals do not...
The majority of available datasets in open government data are statistical. They are widely published by various governments to be used by the public and data consumers. However, most open government data portals do not provide the five-star Linked Data standard datasets. The published datasets are isolated from one another while conceptually connected. This paper constructs a knowledge graph for the disease-related datasets of a Canadian government data portal, Nova Scotia Open Data. We leveraged the Semantic Web technologies to transform the disease-related datasets into Resource Description Framework (RDF) and enriched them with semantic rules. An RDF data model using the RDF Cube vocabulary was designed in this work to develop a graph that adheres to best practices and standards, allowing for expansion, modification and flexible re-use. The study also discusses the lessons learned during the cross-dimensional knowledge graph construction and integration of open statistical datasets from multiple sources.
The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond.
Chan LE, Thessen AE, Duncan WD … +8 more , Matentzoglu N, Schmitt C, Grondin CJ, Vasilevsky N, McMurry JA, Robinson PN, Mungall CJ, Haendel MA
J Biomed Semantics · 2023 Feb · PMID 36823605 · Full text
BACKGROUND: Evaluating the impact of environmental exposures on organism health is a key goal of modern biomedicine and is critically important in an age of greater pollution and chemicals in our environment. Environment...
BACKGROUND: Evaluating the impact of environmental exposures on organism health is a key goal of modern biomedicine and is critically important in an age of greater pollution and chemicals in our environment. Environmental health utilizes many different research methods and generates a variety of data types. However, to date, no comprehensive database represents the full spectrum of environmental health data. Due to a lack of interoperability between databases, tools for integrating these resources are needed. In this manuscript we present the Environmental Conditions, Treatments, and Exposures Ontology (ECTO), a species-agnostic ontology focused on exposure events that occur as a result of natural and experimental processes, such as diet, work, or research activities. ECTO is intended for use in harmonizing environmental health data resources to support cross-study integration and inference for mechanism discovery. METHODS AND FINDINGS: ECTO is an ontology designed for describing organismal exposures such as toxicological research, environmental variables, dietary features, and patient-reported data from surveys. ECTO utilizes the base model established within the Exposure Ontology (ExO). ECTO is developed using a combination of manual curation and Dead Simple OWL Design Patterns (DOSDP), and contains over 2700 environmental exposure terms, and incorporates chemical and environmental ontologies. ECTO is an Open Biological and Biomedical Ontology (OBO) Foundry ontology that is designed for interoperability, reuse, and axiomatization with other ontologies. ECTO terms have been utilized in axioms within the Mondo Disease Ontology to represent diseases caused or influenced by environmental factors, as well as for survey encoding for the Personalized Environment and Genes Study (PEGS). CONCLUSIONS: We constructed ECTO to meet Open Biological and Biomedical Ontology (OBO) Foundry principles to increase translation opportunities between environmental health and other areas of biology. ECTO has a growing community of contributors consisting of toxicologists, public health epidemiologists, and health care providers to provide the necessary expertise for areas that have been identified previously as gaps.
MedLexSp - a medical lexicon for Spanish medical natural language processing.
Campillos-Llanos L
J Biomed Semantics · 2023 Feb · PMID 36732862 · Full text
BACKGROUND: Medical lexicons enable the natural language processing (NLP) of health texts. Lexicons gather terms and concepts from thesauri and ontologies, and linguistic data for part-of-speech (PoS) tagging, lemmatizat...
BACKGROUND: Medical lexicons enable the natural language processing (NLP) of health texts. Lexicons gather terms and concepts from thesauri and ontologies, and linguistic data for part-of-speech (PoS) tagging, lemmatization or natural language generation. To date, there is no such type of resource for Spanish. CONSTRUCTION AND CONTENT: This article describes an unified medical lexicon for Medical Natural Language Processing in Spanish. MedLexSp includes terms and inflected word forms with PoS information and Unified Medical Language System[Formula: see text] (UMLS) semantic types, groups and Concept Unique Identifiers (CUIs). To create it, we used NLP techniques and domain corpora (e.g. MedlinePlus). We also collected terms from the Dictionary of Medical Terms from the Spanish Royal Academy of Medicine, the Medical Subject Headings (MeSH), the Systematized Nomenclature of Medicine - Clinical Terms (SNOMED-CT), the Medical Dictionary for Regulatory Activities Terminology (MedDRA), the International Classification of Diseases vs. 10, the Anatomical Therapeutic Chemical Classification, the National Cancer Institute (NCI) Dictionary, the Online Mendelian Inheritance in Man (OMIM) and OrphaData. Terms related to COVID-19 were assembled by applying a similarity-based approach with word embeddings trained on a large corpus. MedLexSp includes 100 887 lemmas, 302 543 inflected forms (conjugated verbs, and number/gender variants), and 42 958 UMLS CUIs. We report two use cases of MedLexSp. First, applying the lexicon to pre-annotate a corpus of 1200 texts related to clinical trials. Second, PoS tagging and lemmatizing texts about clinical cases. MedLexSp improved the scores for PoS tagging and lemmatization compared to the default Spacy and Stanza python libraries. CONCLUSIONS: The lexicon is distributed in a delimiter-separated value file; an XML file with the Lexical Markup Framework; a lemmatizer module for the Spacy and Stanza libraries; and complementary Lexical Record (LR) files. The embeddings and code to extract COVID-19 terms, and the Spacy and Stanza lemmatizers enriched with medical terms are provided in a public repository.
Classifying literature mentions of biological pathogens as experimentally studied using natural language processing.
Jimeno Yepes AJ, Verspoor K
J Biomed Semantics · 2023 Jan · PMID 36721225 · Full text
BACKGROUND: Information pertaining to mechanisms, management and treatment of disease-causing pathogens including viruses and bacteria is readily available from research publications indexed in MEDLINE. However, identify...
BACKGROUND: Information pertaining to mechanisms, management and treatment of disease-causing pathogens including viruses and bacteria is readily available from research publications indexed in MEDLINE. However, identifying the literature that specifically characterises these pathogens and their properties based on experimental research, important for understanding of the molecular basis of diseases caused by these agents, requires sifting through a large number of articles to exclude incidental mentions of the pathogens, or references to pathogens in other non-experimental contexts such as public health. OBJECTIVE: In this work, we lay the foundations for the development of automatic methods for characterising mentions of pathogens in scientific literature, focusing on the task of identifying research that involves the experimental study of a pathogen in an experimental context. There are no manually annotated pathogen corpora available for this purpose, while such resources are necessary to support the development of machine learning-based models. We therefore aim to fill this gap, producing a large data set automatically from MEDLINE under some simplifying assumptions for the task definition, and using it to explore automatic methods that specifically support the detection of experimentally studied pathogen mentions in research publications. METHODS: We developed a pathogen mention characterisation literature data set -READBiomed-Pathogens- automatically using NCBI resources, which we make available. Resources such as the NCBI Taxonomy, MeSH and GenBank can be used effectively to identify relevant literature about experimentally researched pathogens, more specifically using MeSH to link to MEDLINE citations including titles and abstracts with experimentally researched pathogens. We experiment with several machine learning-based natural language processing (NLP) algorithms leveraging this data set as training data, to model the task of detecting papers that specifically describe experimental study of a pathogen. RESULTS: We show that our data set READBiomed-Pathogens can be used to explore natural language processing configurations for experimental pathogen mention characterisation. READBiomed-Pathogens includes citations related to organisms including bacteria, viruses, and a small number of toxins and other disease-causing agents. CONCLUSIONS: We studied the characterisation of experimentally studied pathogens in scientific literature, developing several natural language processing methods supported by an automatically developed data set. As a core contribution of the work, we presented a methodology to automatically construct a data set for pathogen identification using existing biomedical resources. The data set and the annotation code are made publicly available. Performance of the pathogen mention identification and characterisation algorithms were additionally evaluated on a small manually annotated data set shows that the data set that we have generated allows characterising pathogens of interest. TRIAL REGISTRATION: N/A.
We are not ready yet: limitations of state-of-the-art disease named entity recognizers.
Kühnel L, Fluck J
J Biomed Semantics · 2022 Oct · PMID 36303237 · Full text
BACKGROUND: Intense research has been done in the area of biomedical natural language processing. Since the breakthrough of transfer learning-based methods, BERT models are used in a variety of biomedical and clinical ap...
BACKGROUND: Intense research has been done in the area of biomedical natural language processing. Since the breakthrough of transfer learning-based methods, BERT models are used in a variety of biomedical and clinical applications. For the available data sets, these models show excellent results - partly exceeding the inter-annotator agreements. However, biomedical named entity recognition applied on COVID-19 preprints shows a performance drop compared to the results on test data. The question arises how well trained models are able to predict on completely new data, i.e. to generalize. RESULTS: Based on the example of disease named entity recognition, we investigate the robustness of different machine learning-based methods - thereof transfer learning - and show that current state-of-the-art methods work well for a given training and the corresponding test set but experience a significant lack of generalization when applying to new data. CONCLUSIONS: We argue that there is a need for larger annotated data sets for training and testing. Therefore, we foresee the curation of further data sets and, moreover, the investigation of continual learning processes for machine learning-based models.
A comprehensive update on CIDO: the community-based coronavirus infectious disease ontology.
He Y, Yu H, Huffman A … +40 more , Lin AY, Natale DA, Beverley J, Zheng L, Perl Y, Wang Z, Liu Y, Ong E, Wang Y, Huang P, Tran L, Du J, Shah Z, Shah E, Desai R, Huang HH, Tian Y, Merrell E, Duncan WD, Arabandi S, Schriml LM, Zheng J, Masci AM, Wang L, Liu H, Smaili FZ, Hoehndorf R, Pendlington ZM, Roncaglia P, Ye X, Xie J, Tang YW, Yang X, Peng S, Zhang L, Chen L, Hur J, Omenn GS, Athey B, Smith B
J Biomed Semantics · 2022 Oct · PMID 36271389 · Full text
BACKGROUND: The current COVID-19 pandemic and the previous SARS/MERS outbreaks of 2003 and 2012 have resulted in a series of major global public health crises. We argue that in the interest of developing effective and sa...
BACKGROUND: The current COVID-19 pandemic and the previous SARS/MERS outbreaks of 2003 and 2012 have resulted in a series of major global public health crises. We argue that in the interest of developing effective and safe vaccines and drugs and to better understand coronaviruses and associated disease mechenisms it is necessary to integrate the large and exponentially growing body of heterogeneous coronavirus data. Ontologies play an important role in standard-based knowledge and data representation, integration, sharing, and analysis. Accordingly, we initiated the development of the community-based Coronavirus Infectious Disease Ontology (CIDO) in early 2020. RESULTS: As an Open Biomedical Ontology (OBO) library ontology, CIDO is open source and interoperable with other existing OBO ontologies. CIDO is aligned with the Basic Formal Ontology and Viral Infectious Disease Ontology. CIDO has imported terms from over 30 OBO ontologies. For example, CIDO imports all SARS-CoV-2 protein terms from the Protein Ontology, COVID-19-related phenotype terms from the Human Phenotype Ontology, and over 100 COVID-19 terms for vaccines (both authorized and in clinical trial) from the Vaccine Ontology. CIDO systematically represents variants of SARS-CoV-2 viruses and over 300 amino acid substitutions therein, along with over 300 diagnostic kits and methods. CIDO also describes hundreds of host-coronavirus protein-protein interactions (PPIs) and the drugs that target proteins in these PPIs. CIDO has been used to model COVID-19 related phenomena in areas such as epidemiology. The scope of CIDO was evaluated by visual analysis supported by a summarization network method. CIDO has been used in various applications such as term standardization, inference, natural language processing (NLP) and clinical data integration. We have applied the amino acid variant knowledge present in CIDO to analyze differences between SARS-CoV-2 Delta and Omicron variants. CIDO's integrative host-coronavirus PPIs and drug-target knowledge has also been used to support drug repurposing for COVID-19 treatment. CONCLUSION: CIDO represents entities and relations in the domain of coronavirus diseases with a special focus on COVID-19. It supports shared knowledge representation, data and metadata standardization and integration, and has been used in a range of applications.
Alignment of vaccine codes using an ontology of vaccine descriptions.
Becker BF, Kors JA, van Mulligen EM … +1 more , Sturkenboom MC
J Biomed Semantics · 2022 Oct · PMID 36258262 · Full text
BACKGROUND: Vaccine information in European electronic health record (EHR) databases is represented using various clinical and database-specific coding systems and drug vocabularies. The lack of harmonization constitutes...
BACKGROUND: Vaccine information in European electronic health record (EHR) databases is represented using various clinical and database-specific coding systems and drug vocabularies. The lack of harmonization constitutes a challenge in reusing EHR data in collaborative benefit-risk studies about vaccines. METHODS: We designed an ontology of the properties that are commonly used in vaccine descriptions, called Ontology of Vaccine Descriptions (VaccO), with a dictionary for the analysis of multilingual vaccine descriptions. We implemented five algorithms for the alignment of vaccine coding systems, i.e., the identification of corresponding codes from different coding ystems, based on an analysis of the code descriptors. The algorithms were evaluated by comparing their results with manually created alignments in two reference sets including clinical and database-specific coding systems with multilingual code descriptors. RESULTS: The best-performing algorithm represented code descriptors as logical statements about entities in the VaccO ontology and used an ontology reasoner to infer common properties and identify corresponding vaccine codes. The evaluation demonstrated excellent performance of the approach (F-scores 0.91 and 0.96). CONCLUSION: The VaccO ontology allows the identification, representation, and comparison of heterogeneous descriptions of vaccines. The automatic alignment of vaccine coding systems can accelerate the readiness of EHR databases in collaborative vaccine studies.
About
- Frequency
- Sun
- Papers found
- 200
- RSS feed
- Subscribe