OBJECTIVES: To develop and evaluate a human-LLM (Large Language Model) collaborative approach for systematic ontology updating, demonstrated with the Dietary Lifestyle Ontology (DILON). MATERIALS AND METHODS: One hundred dietary questionnaire items from English and Korean sources were semantically annotated by 4 state-of-the-art language models, which generated candidate concepts for inclusion into DILON. Outputs were refined through cross-model reconciliation, followed by expert review. The model curated the concept within DILON and experts reviewed and refined the outputs in Protégé to ensure accuracy and consistency. RESULTS: Claude Sonnet 4 effectively supported local tasks, including harvesting new concepts, detecting redundancies, and refining hierarchical segments. Global optimization of ontology, however, required systematic examination by human experts. DISCUSSION: These findings highlight the complementary strengths of LLMs and humans: LLMs accelerate repetitive and local updates, whereas humans maintain overall structural integrity. CONCLUSION: Human-LLM collaboration improves efficiency, scalability, and sustainability in ontology engineering, supporting the maintenance of complex biomedical ontologies.

Explainable Artificial Intelligence (XAI), a promising future technology in the field of healthcare, has attracted significant interest. Despite ongoing efforts in the development of XAI approaches, there has been inadequate evaluation of explanation effectiveness and no standardized framework for the evaluation has been established. This study aims to examine the relationship between subjective interpretability and perceived plausibility for various XAI explanations and to determine the factors affecting users' acceptance of the XAI explanation.

OBJECTIVE: This study aims to facilitate the creation of quality standardized nursing statements in South Korea's hospitals using algorithmic generation based on the International Classifications of Nursing Practice (ICNP) and evaluation through Large Language Models. MATERIALS AND METHODS: We algorithmically generated 15 972 statements related to acute respiratory care using 117 concepts and concept composition models of ICNP. Human reviewers, Generative Pre-trained Transformers 4.0 (GPT-4.0), and Bio_Clinical Bidirectional Encoder Representations from Transformers (BERT) evaluated the generated statements for validity. The evaluation by GPT-4.0 and Bio_ClinicalBERT was conducted with and without contextual information and training. RESULTS: Of the generated statements, 2207 were deemed valid by expert reviewers. GPT-4.0 showed a zero-shot AUC of 0.857, which aggravated with contextual information. Bio_ClinicalBERT, after training, significantly improved, reaching an AUC of 0.998. CONCLUSION: Bio_ClinicalBERT effectively validates auto-generated nursing statements, offering a promising solution to enhance and streamline healthcare documentation processes.

OBJECTIVE: Finding relevant datasets is important for promoting data reuse in the biomedical domain, but it is challenging given the volume and complexity of biomedical data. Here we describe the development of an open source biomedical data discovery system called DataMed, with the goal of promoting the building of additional data indexes in the biomedical domain. MATERIALS AND METHODS: DataMed, which can efficiently index and search diverse types of biomedical datasets across repositories, is developed through the National Institutes of Health-funded biomedical and healthCAre Data Discovery Index Ecosystem (bioCADDIE) consortium. It consists of 2 main components: (1) a data ingestion pipeline that collects and transforms original metadata information to a unified metadata model, called DatA Tag Suite (DATS), and (2) a search engine that finds relevant datasets based on user-entered queries. In addition to describing its architecture and techniques, we evaluated individual components within DataMed, including the accuracy of the ingestion pipeline, the prevalence of the DATS model across repositories, and the overall performance of the dataset retrieval engine. RESULTS AND CONCLUSION: Our manual review shows that the ingestion pipeline could achieve an accuracy of 90% and core elements of DATS had varied frequency across repositories. On a manually curated benchmark dataset, the DataMed search engine achieved an inferred average precision of 0.2033 and a precision at 10 (P@10, the number of relevant results in the top 10 search results) of 0.6022, by implementing advanced natural language processing and terminology services. Currently, we have made the DataMed system publically available as an open source package for the biomedical community.

The DAta Tag Suite (DATS) is a model supporting dataset description, indexing, and discovery. It is available as an annotated serialization with schema.org, a vocabulary used by major search engines, thus making the datasets discoverable on the web. DATS underlies DataMed, the National Institutes of Health Big Data to Knowledge Data Discovery Index prototype, which aims to provide a "PubMed for datasets." The experience gained while indexing a heterogeneous range of >60 repositories in DataMed helped in evaluating DATS's entities, attributes, and scope. In this work, 3 additional exemplary and diverse data sources were mapped to DATS by their representatives or experts, offering a deep scan of DATS fitness against a new set of existing data. The procedure, including feedback from users and implementers, resulted in DATS implementation guidelines and best practices, and identification of a path for evolving and optimizing the model. Finally, the work exposed additional needs when defining datasets for indexing, especially in the context of clinical and observational information.

Privacy concern in data sharing especially for health data gains particularly increasing attention nowadays. Now some patients agree to open their information for research use, which gives rise to a new question of how to effectively use the public information to better understand the private dataset without breaching privacy. In this paper, we specialize this question as selecting an optimal subset of the public dataset for M-estimators in the framework of differential privacy (DP) in [1]. From a perspective of non-interactive learning, we first construct the weighted private density estimation from the hybrid datasets under DP. Along the same line as [2], we analyze the accuracy of the DP M-estimators based on the hybrid datasets. Our main contributions are (i) we find that the bias-variance tradeoff in the performance of our M-estimators can be characterized in the sample size of the released dataset; (2) based on this finding, we develop an algorithm to select the optimal subset of the public dataset to release under DP. Our simulation studies and application to the real datasets confirm our findings and set a guideline in the real application.

MOTIVATION: A heterogeneous network topology possessing abundant interactions between biomedical entities has yet to be utilized in similarity-based methods for predicting drug-target associations based on the array of varying features of drugs and their targets. Deep learning reveals features of vertices of a large network that can be adapted in accommodating the similarity-based solutions to provide a flexible method of drug-target prediction. RESULTS: We propose a similarity-based drug-target prediction method that enhances existing association discovery methods by using a topology-based similarity measure. DeepWalk, a deep learning method, is adopted in this study to calculate the similarities within Linked Tripartite Network (LTN), a heterogeneous network generated from biomedical linked datasets. This proposed method shows promising results for drug-target association prediction: 98.96% AUC ROC score with a 10-fold cross-validation and 99.25% AUC ROC score with a Monte Carlo cross-validation with LTN. By utilizing DeepWalk, we demonstrate that: (i) this method outperforms other existing topology-based similarity computation methods, (ii) the performance is better for tripartite than with bipartite networks and (iii) the measure of similarity using network topology outperforms the ones derived from chemical structure (drugs) or genomic sequence (targets). Our proposed methodology proves to be capable of providing a promising solution for drug-target prediction based on topological similarity with a heterogeneous network, and may be readily re-purposed and adapted in the existing of similarity-based methodologies. AVAILABILITY AND IMPLEMENTATION: The proposed method has been developed in JAVA and it is available, along with the data at the following URL: https://github.com/zongnansu1982/drug-target-prediction . CONTACT: [email protected]. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Background: Implementation of patient preferences for use of electronic health records for research has been traditionally limited to identifiable data. Tiered e-consent for use of de-identified data has traditionally been deemed unnecessary or impractical for implementation in clinical settings. Methods: We developed a web-based tiered informed consent tool called informed consent for clinical data and bio-sample use for research (iCONCUR) that honors granular patient preferences for use of electronic health record data in research. We piloted this tool in 4 outpatient clinics of an academic medical center. Results: Of patients offered access to iCONCUR, 394 agreed to participate in this study, among whom 126 patients accessed the website to modify their records according to data category and data recipient. The majority consented to share most of their data and specimens with researchers. Willingness to share was greater among participants from an Human Immunodeficiency Virus (HIV) clinic than those from internal medicine clinics. The number of items declined was higher for for-profit institution recipients. Overall, participants were most willing to share demographics and body measurements and least willing to share family history and financial data. Participants indicated that having granular choices for data sharing was appropriate, and that they liked being informed about who was using their data for what purposes, as well as about outcomes of the research. Conclusion: This study suggests that a tiered electronic informed consent system is a workable solution that respects patient preferences, increases satisfaction, and does not significantly affect participation in research.

OBJECTIVES: To introduce blockchain technologies, including their benefits, pitfalls, and the latest applications, to the biomedical and health care domains. TARGET AUDIENCE: Biomedical and health care informatics researchers who would like to learn about blockchain technologies and their applications in the biomedical/health care domains. SCOPE: The covered topics include: (1) introduction to the famous Bitcoin crypto-currency and the underlying blockchain technology; (2) features of blockchain; (3) review of alternative blockchain technologies; (4) emerging nonfinancial distributed ledger technologies and applications; (5) benefits of blockchain for biomedical/health care applications when compared to traditional distributed databases; (6) overview of the latest biomedical/health care applications of blockchain technologies; and (7) discussion of the potential challenges and proposed solutions of adopting blockchain technologies in biomedical/health care domains.

Biomedical Informatics is a growing interdisciplinary field in which research topics and citation trends have been evolving rapidly in recent years. To analyze these data in a fast, reproducible manner, automation of certain processes is needed. JAMIA is a "generalist" journal for biomedical informatics. Its articles reflect the wide range of topics in informatics. In this study, we retrieved Medical Subject Headings (MeSH) terms and citations of JAMIA articles published between 2009 and 2014. We use tensors (i.e., multidimensional arrays) to represent the interaction among topics, time and citations, and applied tensor decomposition to automate the analysis. The trends represented by tensors were then carefully interpreted and the results were compared with previous findings based on manual topic analysis. A list of most cited JAMIA articles, their topics, and publication trends over recent years is presented. The analyses confirmed previous studies and showed that, from 2012 to 2014, the number of articles related to MeSH terms Methods, Organization & Administration, and Algorithms increased significantly both in number of publications and citations. Citation trends varied widely by topic, with Natural Language Processing having a large number of citations in particular years, and Medical Record Systems, Computerized remaining a very popular topic in all years.

BACKGROUND: Centralized and federated models for sharing data in research networks currently exist. To build multivariate data analysis for centralized networks, transfer of patient-level data to a central computation resource is necessary. The authors implemented distributed multivariate models for federated networks in which patient-level data is kept at each site and data exchange policies are managed in a study-centric manner. OBJECTIVE: The objective was to implement infrastructure that supports the functionality of some existing research networks (e.g., cohort discovery, workflow management, and estimation of multivariate analytic models on centralized data) while adding additional important new features, such as algorithms for distributed iterative multivariate models, a graphical interface for multivariate model specification, synchronous and asynchronous response to network queries, investigator-initiated studies, and study-based control of staff, protocols, and data sharing policies. MATERIALS AND METHODS: Based on the requirements gathered from statisticians, administrators, and investigators from multiple institutions, the authors developed infrastructure and tools to support multisite comparative effectiveness studies using web services for multivariate statistical estimation in the SCANNER federated network. RESULTS: The authors implemented massively parallel (map-reduce) computation methods and a new policy management system to enable each study initiated by network participants to define the ways in which data may be processed, managed, queried, and shared. The authors illustrated the use of these systems among institutions with highly different policies and operating under different state laws. DISCUSSION AND CONCLUSION: Federated research networks need not limit distributed query functionality to count queries, cohort discovery, or independently estimated analytic models. Multivariate analyses can be efficiently and securely conducted without patient-level data transport, allowing institutions with strict local data storage requirements to participate in sophisticated analyses based on federated research networks.

The database of genotypes and phenotypes (dbGaP) developed by the National Center for Biotechnology Information (NCBI) is a resource that contains information on various genome-wide association studies (GWAS) and is currently available via NCBI's dbGaP Entrez interface. The database is an important resource, providing GWAS data that can be used for new exploratory research or cross-study validation by authorized users. However, finding studies relevant to a particular phenotype of interest is challenging, as phenotype information is presented in a non-standardized way. To address this issue, we developed PhenDisco (phenotype discoverer), a new information retrieval system for dbGaP. PhenDisco consists of two main components: (1) text processing tools that standardize phenotype variables and study metadata, and (2) information retrieval tools that support queries from users and return ranked results. In a preliminary comparison involving 18 search scenarios, PhenDisco showed promising performance for both unranked and ranked search comparisons with dbGaP's search engine Entrez. The system can be accessed at http://pfindr.net.

iDASH (integrating data for analysis, anonymization, and sharing) is the newest National Center for Biomedical Computing funded by the NIH. It focuses on algorithms and tools for sharing data in a privacy-preserving manner. Foundational privacy technology research performed within iDASH is coupled with innovative engineering for collaborative tool development and data-sharing capabilities in a private Health Insurance Portability and Accountability Act (HIPAA)-certified cloud. Driving Biological Projects, which span different biological levels (from molecules to individuals to populations) and focus on various health conditions, help guide research and development within this Center. Furthermore, training and dissemination efforts connect the Center with its stakeholders and educate data owners and data consumers on how to share and use clinical and biological data. Through these various mechanisms, iDASH implements its goal of providing biomedical and behavioral researchers with access to data, software, and a high-performance computing environment, thus enabling them to generate and test new hypotheses.

Biomedical informatics is a young, highly interdisciplinary field that is evolving quickly. It is important to know which published topics in generalist biomedical informatics journals elicit the most interest from the scientific community, and whether this interest changes over time, so that journals can better serve their readers. It is also important to understand whether free access to biomedical informatics articles impacts their citation rates in a significant way, so authors can make informed decisions about unlock fees, and journal owners and publishers understand the implications of open access. The topics and JAMIA articles from years 2009 and 2010 that have been most cited according to the Web of Science are described. To better understand the effects of free access in article dissemination, the number of citations per month after publication for articles published in 2009 versus 2010 was compared, since there was a significant change in free access to JAMIA articles between those years. Results suggest that there is a positive association between free access and citation rate for JAMIA articles.

OBJECTIVES: The purpose of this study was to evaluate the adequacy of the International Classification of Nursing Practice (1) (ICPN) Version 1.0 as a representational model for nursing assessment documentation. DESIGN AND MEASUREMENTS: To identify representational requirements of nursing assessments, the authors mapped key concepts and semantic relations extracted from standardized and local nursing admission assessment documentation forms/templates and inpatient admission assessment records to the ICNP. Next, they expanded the list of ICNP semantic relations with those obtained from the admission assessment forms/templates. The expanded ICNP semantic relations were then validated against the semantic relations identified from an additional set of admission assessment records and a set of 300 randomly selected North American Nursing Diagnosis Association defining characteristic phrases. The concept coverage of the ICNP was evaluated by mapping the concepts extracted from these sources to the ICNP concepts. The UMLS Methathesaurus was then used to map concepts without exact matches to other American Nursing Association (ANA) recognized terminologies. RESULTS: The authors found that along with the 30 existing ICNP semantic relations, an additional 17 are required for the ICNP to function as a representational model for nursing assessment documentation. Eight hundred and five unique assessment concepts were extracted from all sources. Forty-three percent of these unique assessment concepts had exact matches in the ICNP. An additional 20% had matches in the ICNP classified as narrower, broader, or "other." Of the concepts without exact matches in the ICNP, 81% had exact matches found in other ANA recognized terminologies. CONCLUSIONS: The broad concept coverage and the logic-based structure of the ICNP make it a flexible and robust standard. The ICNP provides a framework from which to capture and reuse atomic level data to facilitate evidence-based practice.

OBJECTIVE: This study has two objectives: first, to identify and characterize consumer health terms not found in the Unified Medical Language System (UMLS) Metathesaurus (2007 AB); second, to describe the procedure for creating new concepts in the process of building a consumer health vocabulary. How do the unmapped consumer health concepts relate to the existing UMLS concepts? What is the place of these new concepts in professional medical discourse? DESIGN: The consumer health terms were extracted from two large corpora derived in the process of Open Access Collaboratory Consumer Health Vocabulary (OAC CHV) building. Terms that could not be mapped to existing UMLS concepts via machine and manual methods prompted creation of new concepts, which were then ascribed semantic types, related to existing UMLS concepts, and coded according to specified criteria. RESULTS: This approach identified 64 unmapped concepts, 17 of which were labeled as uniquely "lay" and not feasible for inclusion in professional health terminologies. The remaining terms constituted potential candidates for inclusion in professional vocabularies, or could be constructed by post-coordinating existing UMLS terms. The relationship between new and existing concepts differed depending on the corpora from which they were extracted. CONCLUSION: Non-mapping concepts constitute a small proportion of consumer health terms, but a proportion that is likely to affect the process of consumer health vocabulary building. We have identified a novel approach for identifying such concepts.