Mark A. Musen

Sowmya S. Sundaram, Mark A. Musen · stanford

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.

Josef Hardi, Martin J. O'Connor, Marcos Martinez-Romero et al.

Scientific metadata are often incomplete and noncompliant with community standards, limiting dataset findability, interoperability, and reuse. When reporting guidelines exist, they typically lack machine-actionable representations. Producing FAIR datasets requires encoding metadata standards as machine-actionable templates with rich field specifications and precise value constraints. Recent work has shown that LLMs guided by field names and ontology constraints can improve metadata standardization, but these approaches treat constraints as static text prompts, relying on the model's training knowledge alone. We present an LLM-based metadata standardization system that queries authoritative biomedical terminology services in real time to retrieve canonically correct vocabulary terms on demand. We evaluate this approach on 839 legacy metadata records from the Human BioMolecular Atlas Program (HuBMAP) using an expert-curated gold standard for exact-match assessment. Our evaluation shows that augmenting the LLM with real-time tool access consistently improves prediction accuracy over the LLM alone across both ontology-constrained and non-ontology-constrained fields, demonstrating a practical, scalable approach to automated standardization of biomedical metadata.

Sowmya S. Sundaram, Benjamin Solomon, Avani Khatri et al. · stanford

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

Sowmya S Sundaram, Rafael S. Gonçalves, Mark A Musen · stanford

Scientific metadata often suffer from incompleteness, inconsistency, and formatting errors, which hinder effective discovery and reuse of the associated datasets. We present a method that combines GPT-4 with structured metadata templates from the CEDAR knowledge base to automatically standardize metadata and to ensure compliance with established standards. A CEDAR template specifies the expected fields of a metadata submission and their permissible values. Our standardization process involves using CEDAR templates to guide GPT-4 in accurately correcting and refining metadata entries in bulk, resulting in significant improvements in metadata retrieval performance, especially in recall -- the proportion of relevant datasets retrieved from the total relevant datasets available. Using the BioSample and GEO repositories maintained by the National Center for Biotechnology Information (NCBI), we demonstrate that retrieval of datasets whose metadata are altered by GPT-4 when provided with CEDAR templates (GPT-4+CEDAR) is substantially better than retrieval of datasets whose metadata are in their original state and that of datasets whose metadata are altered using GPT-4 with only data-dictionary guidance (GPT-4+DD). The average recall increases dramatically, from 17.65\% with baseline raw metadata to 62.87\% with GPT-4+CEDAR. Furthermore, we evaluate the robustness of our approach by comparing GPT-4 against other large language models, including LLaMA-3 and MedLLaMA2, demonstrating consistent performance advantages for GPT-4+CEDAR. These results underscore the transformative potential of combining advanced language models with symbolic models of standardized metadata structures for more effective and reliable data retrieval, thus accelerating scientific discoveries and data-driven research.

Katy Börner, Ellen M. Quardokus, Bruce W. Herr et al.

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.

Maulik R. Kamdar, Mark A. Musen

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.

Rafael S. Gonçalves, Matthew Horridge, Rui Li et al.

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.

Rafael S. Gonçalves, Maulik R. Kamdar, Mark A. Musen

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.

Marcos Martinez-Romero, Clement Jonquet, Martin J. O'Connor et al.

Biomedical researchers use ontologies to annotate their data with ontology terms, enabling better data integration and interoperability. However, the number, variety and complexity of current biomedical ontologies make it cumbersome for researchers to determine which ones to reuse for their specific needs. To overcome this problem, in 2010 the National Center for Biomedical Ontology (NCBO) released the Ontology Recommender, which is a service that receives a biomedical text corpus or a list of keywords and suggests ontologies appropriate for referencing the indicated terms. We developed a new version of the NCBO Ontology Recommender. Called Ontology Recommender 2.0, it uses a new recommendation approach that evaluates the relevance of an ontology to biomedical text data according to four criteria: (1) the extent to which the ontology covers the input data; (2) the acceptance of the ontology in the biomedical community; (3) the level of detail of the ontology classes that cover the input data; and (4) the specialization of the ontology to the domain of the input data. Our evaluation shows that the enhanced recommender provides higher quality suggestions than the original approach, providing better coverage of the input data, more detailed information about their concepts, increased specialization for the domain of the input data, and greater acceptance and use in the community. In addition, it provides users with more explanatory information, along with suggestions of not only individual ontologies but also groups of ontologies. It also can be customized to fit the needs of different scenarios. Ontology Recommender 2.0 combines the strengths of its predecessor with a range of adjustments and new features that improve its reliability and usefulness. Ontology Recommender 2.0 recommends over 500 biomedical ontologies from the NCBO BioPortal platform, where it is openly available.

Simon Walk, Lisette Espín-Noboa, Denis Helic et al.

Ontologies in the biomedical domain are numerous, highly specialized and very expensive to develop. Thus, a crucial prerequisite for ontology adoption and reuse is effective support for exploring and finding existing ontologies. Towards that goal, the National Center for Biomedical Ontology (NCBO) has developed BioPortal---an online repository designed to support users in exploring and finding more than 500 existing biomedical ontologies. In 2016, BioPortal represents one of the largest portals for exploration of semantic biomedical vocabularies and terminologies, which is used by many researchers and practitioners. While usage of this portal is high, we know very little about how exactly users search and explore ontologies and what kind of usage patterns or user groups exist in the first place. Deeper insights into user behavior on such portals can provide valuable information to devise strategies for a better support of users in exploring and finding existing ontologies, and thereby enable better ontology reuse. To that end, we study and group users according to their browsing behavior on BioPortal using data mining techniques. Additionally, we use the obtained groups to characterize and compare exploration strategies across ontologies. In particular, we were able to identify seven distinct browsing-behavior types, which all make use of different functionality provided by BioPortal. For example, Search Explorers make extensive use of the search functionality while Ontology Tree Explorers mainly rely on the class hierarchy to explore ontologies. Further, we show that specific characteristics of ontologies influence the way users explore and interact with the website. Our results may guide the development of more user-oriented systems for ontology exploration on the Web.

Simon Walk, Philipp Singer, Markus Strohmaier et al.

Biomedical taxonomies, thesauri and ontologies in the form of the International Classification of Diseases (ICD) as a taxonomy or the National Cancer Institute Thesaurus as an OWL-based ontology, play a critical role in acquiring, representing and processing information about human health. With increasing adoption and relevance, biomedical ontologies have also significantly increased in size. For example, the 11th revision of the ICD, which is currently under active development by the WHO contains nearly 50,000 classes representing a vast variety of different diseases and causes of death. This evolution in terms of size was accompanied by an evolution in the way ontologies are engineered. Because no single individual has the expertise to develop such large-scale ontologies, ontology-engineering projects have evolved from small-scale efforts involving just a few domain experts to large-scale projects that require effective collaboration between dozens or even hundreds of experts, practitioners and other stakeholders. Understanding how these stakeholders collaborate will enable us to improve editing environments that support such collaborations. We uncover how large ontology-engineering projects, such as the ICD in its 11th revision, unfold by analyzing usage logs of five different biomedical ontology-engineering projects of varying sizes and scopes using Markov chains. We discover intriguing interaction patterns (e.g., which properties users subsequently change) that suggest that large collaborative ontology-engineering projects are governed by a few general principles that determine and drive development. From our analysis, we identify commonalities and differences between different projects that have implications for project managers, ontology editors, developers and contributors working on collaborative ontology-engineering projects and tools in the biomedical domain.

Simon Walk, Philipp Singer, Markus Strohmaier et al.

With the growing popularity of large-scale collaborative ontology-engineering projects, such as the creation of the 11th revision of the International Classification of Diseases, we need new methods and insights to help project- and community-managers to cope with the constantly growing complexity of such projects. In this paper, we present a novel application of Markov chains to model sequential usage patterns that can be found in the change-logs of collaborative ontology-engineering projects. We provide a detailed presentation of the analysis process, describing all the required steps that are necessary to apply and determine the best fitting Markov chain model. Amongst others, the model and results allow us to identify structural properties and regularities as well as predict future actions based on usage sequences. We are specifically interested in determining the appropriate Markov chain orders which postulate on how many previous actions future ones depend on. To demonstrate the practical usefulness of the extracted Markov chains we conduct sequential pattern analyses on a large-scale collaborative ontology-engineering dataset, the International Classification of Diseases in its 11th revision. To further expand on the usefulness of the presented analysis, we show that the collected sequential patterns provide potentially actionable information for user-interface designers, ontology-engineering tool developers and project-managers to monitor, coordinate and dynamically adapt to the natural development processes that occur when collaboratively engineering an ontology. We hope that presented work will spur a new line of ontology-development tools, evaluation-techniques and new insights, further taking the interactive nature of the collaborative ontology-engineering process into consideration.

John W. Egar, Mark A. Musen

One of the most difficult aspects of modeling complex dilemmas in decision-analytic terms is composing a diagram of relevance relations from a set of domain concepts. Decision models in domains such as medicine, however, exhibit certain prototypical patterns that can guide the modeling process. Medical concepts can be classified according to semantic types that have characteristic positions and typical roles in an influence-diagram model. We have developed a graph-grammar production system that uses such inherent interrelationships among medical terms to facilitate the modeling of medical decisions.