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Mark A. Musen

Publications and source records attributed to Mark A. Musen.

At least 19 recordsLinked to original sources

Automated Standardization of Legacy Biomedical Metadata Using an Ontology-Constrained LLM Agent

Descriptive scientific metadata in public repositories are often incomplete and inconsistent with community standards and ontologies, limiting data FAIRness. Large language models (LLMs) offer a promising approach to automatically standardizing such metadata when provided with relevant standards in machine-actionable form, such as metadata templates from the CEDAR Workbench. Prompt engineering, however, provides only fixed snapshots of these standards and relies on an LLM's pretrained knowledge to interpret and satisfy their constraints. We evaluate whether giving an LLM access to metadata specifications and authoritative terminology at runtime improves automated metadata standardization. Methods: We present ARMS, a tool-augmented LLM agent that retrieves complete CEDAR metadata templates and dynamically queries authoritative biomedical terminology services at execution time. We compared ARMS with a prompt-based approach on 839 legacy metadata records from the Human BioMolecular Atlas Program (HuBMAP), using expert-standardized records as the reference standard. Results: ARMS outperformed the prompt-based approach, increasing precision from 0.56 to 0.93 and recall from 0.51 to 0.85, with improvements across all field categories and assay types. The largest gains occurred for ontology-constrained fields, where precision increased from 0.36 to 0.92. Conclusion: LLMs cannot convert legacy metadata to standards-adherent form without knowledge of the relevant standards. ARMS improves metadata standardization by providing runtime access to authoritative resources that define valid metadata. Machine-actionable metadata standards enhance LLM-based rectification of legacy metadata, especially when they can be queried dynamically.

cs.DB

HuBMAP Data Portal: a resource for multimodal spatial and single-cell data of healthy human tissues

The NIH Human BioMolecular Atlas Program (HuBMAP) Data Portal (https://portal.hubmapconsortium.org/) serves as a comprehensive repository for multimodal, multi-scale spatial and single-cell data from healthy human tissues. As of August 2026, the portal hosts 9,316 public datasets from 26 data types spanning 29 organ classes across 501 donors. Portal infrastructure and user interfaces support data search and discovery, visualization, and analysis directly in web browsers. These capabilities include metadata- and data-driven search, collaborative Workspaces with access to high-performance compute, and interactive Vitessce visualizations across non-spatial, 2D, and 3D spatial datasets. Data-type-specific uniform processing pipelines and rigorous quality control processes ensure comparability of results across laboratories, organs, and donors, while externally processed community-contributed datasets provide complementary perspectives. Here we describe portal functionality, infrastructure, and design, and highlight its role as a platform for large-scale spatial single-cell research across diverse data types, organs, and scales.

q-bio.QM

Desiderata for a biomedical knowledge network: opportunities, challenges and future Directions

Knowledge graphs, collectively as a knowledge network, have become critical tools for knowledge discovery in computable and explainable knowledge systems. Due to the semantic and structural complexities of biomedical data, these knowledge graphs need to enable dynamic reasoning over large evolving graphs and support fit-for-purpose abstraction, while establishing standards, preserving provenance and enforcing policy constraints for actionable discovery. A recent meeting of leading scientists discussed the opportunities, challenges and future directions of a biomedical knowledge network. Here we present six desiderata inspired by the meeting: (1) inference and reasoning in biomedical knowledge graphs need domain-centric approaches; (2) harmonized and accessible standards are required for knowledge graph representation and metadata; (3) robust validation of biomedical knowledge graphs needs multi-layered, context-aware approaches that are both rigorous and scalable; (4) the evolving and synergistic relationship between knowledge graphs and large language models is essential in empowering AI-driven biomedical discovery; (5) integrated development environments, public repositories, and governance frameworks are essential for secure and reproducible knowledge graph sharing; and (6) robust validation, provenance, and ethical governance are critical for trustworthy biomedical knowledge graphs. Addressing these key issues will be essential to realize the promises of a biomedical knowledge network in advancing biomedicine.

q-bio.OT

Knowledge engineering for open science: Building and deploying knowledge bases for metadata standards

Scientists strive to make their datasets available in open repositories, with the goal that they be findable, accessible, interoperable, and reusable (FAIR). Although it is hard for most investigators to remember all the guiding principles associated with FAIR data, there is one overarching requirement: The data need to be annotated with rich, discipline-specific, standardized metadata. The Center for Expanded Data Annotation and Retrieval (CEDAR) builds technology that enables scientists to encode metadata standards as templates that enumerate the attributes of different kinds of experiments. These metadata templates capture preferences regarding how data should be described and what a third party needs to know to make sense of the datasets. CEDAR templates describing community metadata preferences have been used to standardize metadata for a variety of scientific consortia. They have been used as the basis for data-annotation systems that acquire metadata through Web forms or through spreadsheets, and they can help correct metadata to ensure adherence to standards. Like the declarative knowledge bases that underpinned intelligent systems decades ago, CEDAR templates capture the knowledge in symbolic form, and they allow that knowledge to be applied in a variety of settings. They provide a mechanism for scientific communities to create shared metadata standards and to encode their preferences for the application of those standards, and for deploying those standards in a range of intelligent systems to promote open science.

cs.DL

Author Once, Publish Everywhere: Portable Metadata Authoring with the CEDAR Embeddable Editor

High-quality, "rich" metadata are essential for making research data findable, interoperable, and reusable. The Center for Expanded Data Annotation and Retrieval (CEDAR) has long addressed this need by providing tools to design machine-actionable metadata templates that encode community standards in a computable form. To make these capabilities more accessible within real-world research workflows, we have developed the CEDAR Embeddable Editor (CEE)-a lightweight, interoperable Web Component that brings structured, standards-based metadata authoring directly into third-party platforms. The CEE dynamically renders metadata forms from machine-actionable templates and produces semantically rich metadata in JSON-LD format. It supports ontology-based value selection via the BioPortal ontology repository, and it includes external authority resolution for persistent identifiers such as ORCIDs for individuals and RORs for research organizations. Crucially, the CEE requires no custom user-interface development, allowing deployment across diverse platforms. The CEE has been successfully integrated into generalist scientific data repositories such as Dryad and the Open Science Framework, demonstrating its ability to support discipline-specific metadata creation. By supporting the embedding of metadata authoring within existing research environments, the CEE can facilitate the adoption of community standards and help improve metadata quality across scientific disciplines.

cs.DL

A General-Purpose Data Harmonization Framework: Supporting Reproducible and Scalable Data Integration in the RADx Data Hub

In the age of big data, it is important for primary research data to follow the FAIR principles of findability, accessibility, interoperability, and reusability. Data harmonization enhances interoperability and reusability by aligning heterogeneous data under standardized representations, benefiting both repository curators responsible for upholding data quality standards and consumers who require unified datasets. However, data harmonization is difficult in practice, requiring significant domain and technical expertise. We present a software framework to facilitate principled and reproducible harmonization protocols. Our framework implements a novel strategy of building harmonization transformations from parameterizable primitive operations, such as the assignment of numerical values to user-specified categories, with automated bookkeeping for executed transformations. We establish our data representation model and harmonization strategy and then report a proof-of-concept application in the context of the RADx Data Hub. Our framework enables data practitioners to execute transparent and reproducible harmonization protocols that align closely with their research goals.

cs.DB

RADx Data Hub: A Cloud Platform for FAIR, Harmonized COVID-19 Data

The COVID-19 pandemic highlighted the urgent need for robust systems to enable rapid data collection, integration, and analysis for public health responses. Existing approaches often relied on disparate, non-interoperable systems, creating bottlenecks in comprehensive analyses and timely decision-making. To address these challenges, the U.S. National Institutes of Health (NIH) launched the Rapid Acceleration of Diagnostics (RADx) initiative in 2020, with the RADx Data Hub, a centralized repository for de-identified and curated COVID-19 data, as its cornerstone. The RADx Data Hub hosts diverse study data, including clinical data, testing results, smart sensor outputs, self-reported symptoms, and information on social determinants of health. Built on cloud infrastructure, the RADx Data Hub integrates metadata standards, interoperable formats, and ontology-based tools to adhere to the FAIR (Findable, Accessible, Interoperable, Reusable) principles for data sharing. Initially developed for COVID-19 research, its architecture and processes are adaptable to other scientific disciplines. This paper provides an overview of the data hosted by the RADx Data Hub and describes the platform's capabilities and architecture.

cs.DB

Ensuring Adherence to Standards in Experiment-Related Metadata Entered Via Spreadsheets

Scientists increasingly recognize the importance of providing rich, standards-adherent metadata to describe their experimental results. Despite the availability of sophisticated tools to assist in the process of data annotation, investigators generally seem to prefer to use spreadsheets when supplying metadata, despite the limitations of spreadsheets in ensuring metadata consistency and compliance with formal specifications. In this paper, we describe an end-to-end approach that supports spreadsheet-based entry of metadata, while ensuring rigorous adherence to community-based metadata standards and providing quality control. Our methods employ several key components, including customizable templates that represent metadata standards and that can inform the spreadsheets that investigators use to author metadata, controlled terminologies and ontologies for defining metadata values that can be accessed directly from a spreadsheet, and an interactive Web-based tool that allows users to rapidly identify and fix errors in their spreadsheet-based metadata. We demonstrate how this approach is being deployed in a biomedical consortium known as HuBMAP to define and collect metadata about a wide range of biological assays.

cs.DL

Use of a Structured Knowledge Base Enhances Metadata Curation by Large Language Models

Metadata play a crucial role in ensuring the findability, accessibility, interoperability, and reusability of datasets. This paper investigates the potential of large language models (LLMs), specifically GPT-4, to improve adherence to metadata standards. We conducted experiments on 200 random data records describing human samples relating to lung cancer from the NCBI BioSample repository, evaluating GPT-4's ability to suggest edits for adherence to metadata standards. We computed the adherence accuracy of field name-field value pairs through a peer review process, and we observed a marginal average improvement in adherence to the standard data dictionary from 79% to 80% (p<0.5). We then prompted GPT-4 with domain information in the form of the textual descriptions of CEDAR templates and recorded a significant improvement to 97% from 79% (p<0.01). These results indicate that, while LLMs may not be able to correct legacy metadata to ensure satisfactory adherence to standards when unaided, they do show promise for use in automated metadata curation when integrated with a structured knowledge base

cs.AI

A Comprehensive Approach to Ensuring Quality in Spreadsheet-Based Metadata

While scientists increasingly recognize the importance of metadata in describing their data, spreadsheets remain the preferred tool for supplying this information despite their limitations in ensuring compliance and quality. Various tools have been developed to address these limitations, but they suffer from their own shortcomings, such as steep learning curves and limited customization. In this paper, we describe an end-to-end approach that supports spreadsheet-based entry of metadata while providing rigorous compliance and quality control. Our approach employs several key strategies, including customizable templates for defining metadata, integral support for the use of controlled terminologies when defining these templates, and an interactive Web-based tool that allows users to rapidly identify and fix errors in the spreadsheet-based metadata they supply. We demonstrate how this approach is being deployed in a biomedical consortium to define and collect metadata about scientific experiments.

cs.DL

Making Metadata More FAIR Using Large Language Models

With the global increase in experimental data artifacts, harnessing them in a unified fashion leads to a major stumbling block - bad metadata. To bridge this gap, this work presents a Natural Language Processing (NLP) informed application, called FAIRMetaText, that compares metadata. Specifically, FAIRMetaText analyzes the natural language descriptions of metadata and provides a mathematical similarity measure between two terms. This measure can then be utilized for analyzing varied metadata, by suggesting terms for compliance or grouping similar terms for identification of replaceable terms. The efficacy of the algorithm is presented qualitatively and quantitatively on publicly available research artifacts and demonstrates large gains across metadata related tasks through an in-depth study of a wide variety of Large Language Models (LLMs). This software can drastically reduce the human effort in sifting through various natural language metadata while employing several experimental datasets on the same topic.

cs.CL

Modeling community standards for metadata as templates makes data FAIR

It is challenging to determine whether datasets are findable, accessible, interoperable, and reusable (FAIR) because the FAIR Guiding Principles refer to highly idiosyncratic criteria regarding the metadata used to annotate datasets. Specifically, the FAIR principles require metadata to be "rich" and to adhere to "domain-relevant" community standards. Scientific communities should be able to define their own machine-actionable templates for metadata that encode these "rich," discipline-specific elements. We have explored this template-based approach in the context of two software systems. One system is the CEDAR Workbench, which investigators use to author new metadata. The other is the FAIRware Workbench, which evaluates the metadata of archived datasets for their adherence to community standards. Benefits accrue when templates for metadata become central elements in an ecosystem of tools to manage online datasets--both because the templates serve as a community reference for what constitutes FAIR data, and because they embody that perspective in a form that can be distributed among a variety of software applications to assist with data stewardship and data sharing.

cs.DL

Using Ethnographic Methods to Classify the Human Experience in Medicine: A Case Study of the Presence Ontology

Objective Although social and environmental factors are central to provider patient interactions, the data that reflect these factors can be incomplete, vague, and subjective. We sought to create a conceptual framework to describe and classify data about presence, the domain of interpersonal connection in medicine. Methods Our top down approach for ontology development based on the concept of relationality included 1) broad survey of social sciences literature and systematic literature review of more than 20,000 articles around interpersonal connection in medicine, 3) relational ethnography of clinical encounters (5 pilot, 27 full) and 4) interviews about relational work with 40 medical and nonmedical professionals. We formalized the model using the Web Ontology Language in the Protege ontology editor. We iteratively evaluated and refined the Presence Ontology through manual expert review and automated annotation of literature. Results and Discussion The Presence Ontology facilitates the naming and classification of concepts that would otherwise be vague. Our model categorizes contributors to healthcare encounters and factors such as Communication, Emotions, Tools, and Environment. Ontology evaluation indicated that Cognitive Models (both patients explanatory models and providers caregiving approaches) influenced encounters and were subsequently incorporated. We show how ethnographic methods based in relationality can aid the representation of experiential concepts (e.g., empathy, trust). Our ontology could support informatics applications to improve healthcare such annotation of videotaped encounters, clinical instruments to measure presence, or EHR based reminders for providers. Conclusion The Presence Ontology provides a model for using ethnographic approaches to classify interpersonal data.

cs.IT

Construction and Usage of a Human Body Common Coordinate Framework Comprising Clinical, Semantic, and Spatial Ontologies

The National Institutes of Health's (NIH) Human Biomolecular Atlas Program (HuBMAP) aims to create a comprehensive high-resolution atlas of all the cells in the healthy human body. Multiple laboratories across the United States are collecting tissue specimens from different organs of donors who vary in sex, age, and body size. Integrating and harmonizing the data derived from these samples and 'mapping' them into a common three-dimensional (3D) space is a major challenge. The key to making this possible is a 'Common Coordinate Framework' (CCF), which provides a semantically annotated, 3D reference system for the entire body. The CCF enables contributors to HuBMAP to 'register' specimens and datasets within a common spatial reference system, and it supports a standardized way to query and 'explore' data in a spatially and semantically explicit manner. [...] This paper describes the construction and usage of a CCF for the human body and its reference implementation in HuBMAP. The CCF consists of (1) a CCF Clinical Ontology, which provides metadata about the specimen and donor (the 'who'); (2) a CCF Semantic Ontology, which describes 'what' part of the body a sample came from and details anatomical structures, cell types, and biomarkers (ASCT+B); and (3) a CCF Spatial Ontology, which indicates 'where' a tissue sample is located in a 3D coordinate system. An initial version of all three CCF ontologies has been implemented for the first HuBMAP Portal release. It was successfully used by Tissue Mapping Centers to semantically annotate and spatially register 48 kidney and spleen tissue blocks. The blocks can be queried and explored in their clinical, semantic, and spatial context via the CCF user interface in the HuBMAP Portal.

q-bio.QM

An Empirical Meta-analysis of the Life Sciences (Linked?) Open Data on the Web

While the biomedical community has published several "open data" sources in the last decade, most researchers still endure severe logistical and technical challenges to discover, query, and integrate heterogeneous data and knowledge from multiple sources. To tackle these challenges, the community has experimented with Semantic Web and linked data technologies to create the Life Sciences Linked Open Data (LSLOD) cloud. In this paper, we extract schemas from more than 80 publicly available biomedical linked data graphs into an LSLOD schema graph and conduct an empirical meta-analysis to evaluate the extent of semantic heterogeneity across the LSLOD cloud. We observe that several LSLOD sources exist as stand-alone data sources that are not inter-linked with other sources, use unpublished schemas with minimal reuse or mappings, and have elements that are not useful for data integration from a biomedical perspective. We envision that the LSLOD schema graph and the findings from this research will aid researchers who wish to query and integrate data and knowledge from multiple biomedical sources simultaneously on the Web.

cs.AI

Use of OWL and Semantic Web Technologies at Pinterest

Pinterest is a popular Web application that has over 250 million active users. It is a visual discovery engine for finding ideas for recipes, fashion, weddings, home decoration, and much more. In the last year, the company adopted Semantic Web technologies to create a knowledge graph that aims to represent the vast amount of content and users on Pinterest, to help both content recommendation and ads targeting. In this paper, we present the engineering of an OWL ontology---the Pinterest Taxonomy---that forms the core of Pinterest's knowledge graph, the Pinterest Taste Graph. We describe modeling choices and enhancements to WebProtégé that we used for the creation of the ontology. In two months, eight Pinterest engineers, without prior experience of OWL and WebProtégé, revamped an existing taxonomy of noisy terms into an OWL ontology. We share our experience and present the key aspects of our work that we believe will be useful for others working in this area.

cs.CL

Aligning Biomedical Metadata with Ontologies Using Clustering and Embeddings

The metadata about scientific experiments published in online repositories have been shown to suffer from a high degree of representational heterogeneity---there are often many ways to represent the same type of information, such as a geographical location via its latitude and longitude. To harness the potential that metadata have for discovering scientific data, it is crucial that they be represented in a uniform way that can be queried effectively. One step toward uniformly-represented metadata is to normalize the multiple, distinct field names used in metadata (e.g., lat lon, lat and long) to describe the same type of value. To that end, we present a new method based on clustering and embeddings (i.e., vector representations of words) to align metadata field names with ontology terms. We apply our method to biomedical metadata by generating embeddings for terms in biomedical ontologies from the BioPortal repository. We carried out a comparative study between our method and the NCBO Annotator, which revealed that our method yields more and substantially better alignments between metadata and ontology terms.

cs.CL

The CEDAR Workbench: An Ontology-Assisted Environment for Authoring Metadata that Describe Scientific Experiments

The Center for Expanded Data Annotation and Retrieval (CEDAR) aims to revolutionize the way that metadata describing scientific experiments are authored. The software we have developed--the CEDAR Workbench--is a suite of Web-based tools and REST APIs that allows users to construct metadata templates, to fill in templates to generate high-quality metadata, and to share and manage these resources. The CEDAR Workbench provides a versatile, REST-based environment for authoring metadata that are enriched with terms from ontologies. The metadata are available as JSON, JSON-LD, or RDF for easy integration in scientific applications and reusability on the Web. Users can leverage our APIs for validating and submitting metadata to external repositories. The CEDAR Workbench is freely available and open-source.

cs.DB