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Chris Bizon

Publications and source records attributed to Chris Bizon.

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The "I" in FAIR: Translating from Interoperability in Principle to Interoperation in Practice

The FAIR (Findable, Accessible, Interoperable, and Reusable) data principles [1] promote the interoperability of scientific data by encouraging the use of persistent identifiers, standardized vocabularies, and formal metadata structures. Many resources are created using vocabularies that are FAIR-compliant and well-annotated, yet the collective ecosystem of these resources often fails to interoperate effectively in practice. This continued challenge is mainly due to variation in identifier schemas and data models used in these resources. We have created two tools to bridge the chasm between interoperability in principle and interoperation in practice. Babel solves the problem of multiple identifier schemes by producing a curated set of identifier mappings to create cliques of equivalent identifiers that are exposed through high-performance APIs. ORION solves the problems of multiple data models by ingesting knowledge bases and transforming them into a common, community-managed data model. Here, we describe Babel and ORION and demonstrate their ability to support data interoperation. A library of fully interoperable knowledge bases created through the application of Babel and ORION is available for download and use at https://robokop.renci.org.

cs.DB

LinkML: An Open Data Modeling Framework

Scientific research relies on well-structured, standardized data; however, much of it is stored in formats such as free-text lab notebooks, non-standardized spreadsheets, or data repositories. This lack of structure challenges interoperability, making data integration, validation, and reuse difficult. LinkML (Linked Data Modeling Language) is an open framework that simplifies the process of authoring, validating, and sharing data. LinkML can describe a range of data structures, from flat, list-based models to complex, interrelated, and normalized models that utilize polymorphism and compound inheritance. It offers an approachable syntax that is not tied to any one technical architecture and can be integrated seamlessly with many existing frameworks. The LinkML syntax provides a standard way to describe schemas, classes, and relationships, allowing modelers to build well-defined, stable, and optionally ontology-aligned data structures. Once defined, LinkML schemas may be imported into other LinkML schemas. These key features make LinkML an accessible platform for interdisciplinary collaboration and a reliable way to define and share data semantics. LinkML helps reduce heterogeneity, complexity, and the proliferation of single-use data models while simultaneously enabling compliance with FAIR data standards. LinkML has seen increasing adoption in various fields, including biology, chemistry, biomedicine, microbiome research, finance, electrical engineering, transportation, and commercial software development. In short, LinkML makes implicit models explicitly computable and allows data to be standardized at its origin. LinkML documentation and code are available at linkml.io.

cs.DB

RELATE: Relation Extraction in Biomedical Abstracts with LLMs and Ontology Constraints

Biomedical knowledge graphs (KGs) are vital for drug discovery and clinical decision support but remain incomplete. Large language models (LLMs) excel at extracting biomedical relations, yet their outputs lack standardization and alignment with ontologies, limiting KG integration. We introduce RELATE, a three-stage pipeline that maps LLM-extracted relations to standardized ontology predicates using ChemProt and the Biolink Model. The pipeline includes: (1) ontology preprocessing with predicate embeddings, (2) similarity-based retrieval enhanced with SapBERT, and (3) LLM-based reranking with explicit negation handling. This approach transforms relation extraction from free-text outputs to structured, ontology-constrained representations. On the ChemProt benchmark, RELATE achieves 52% exact match and 94% accuracy@10, and in 2,400 HEAL Project abstracts, it effectively rejects irrelevant associations (0.4%) and identifies negated assertions. RELATE captures nuanced biomedical relationships while ensuring quality for KG augmentation. By combining vector search with contextual LLM reasoning, RELATE provides a scalable, semantically accurate framework for converting unstructured biomedical literature into standardized KGs.

cs.IR

Explainable Enrichment-Driven GrAph Reasoner (EDGAR) for Large Knowledge Graphs with Applications in Drug Repurposing

Knowledge graphs (KGs) represent connections and relationships between real-world entities. We propose a link prediction framework for KGs named Enrichment-Driven GrAph Reasoner (EDGAR), which infers new edges by mining entity-local rules. This approach leverages enrichment analysis, a well-established statistical method used to identify mechanisms common to sets of differentially expressed genes. EDGAR's inference results are inherently explainable and rankable, with p-values indicating the statistical significance of each enrichment-based rule. We demonstrate the framework's effectiveness on a large-scale biomedical KG, ROBOKOP, focusing on drug repurposing for Alzheimer disease (AD) as a case study. Initially, we extracted 14 known drugs from the KG and identified 20 contextual biomarkers through enrichment analysis, revealing functional pathways relevant to shared drug efficacy for AD. Subsequently, using the top 1000 enrichment results, our system identified 1246 additional drug candidates for AD treatment. The top 10 candidates were validated using evidence from medical literature. EDGAR is deployed within ROBOKOP, complete with a web user interface. This is the first study to apply enrichment analysis to large graph completion and drug repurposing.

cs.IT

Biolink Model: A Universal Schema for Knowledge Graphs in Clinical, Biomedical, and Translational Science

Within clinical, biomedical, and translational science, an increasing number of projects are adopting graphs for knowledge representation. Graph-based data models elucidate the interconnectedness between core biomedical concepts, enable data structures to be easily updated, and support intuitive queries, visualizations, and inference algorithms. However, knowledge discovery across these "knowledge graphs" (KGs) has remained difficult. Data set heterogeneity and complexity; the proliferation of ad hoc data formats; poor compliance with guidelines on findability, accessibility, interoperability, and reusability; and, in particular, the lack of a universally-accepted, open-access model for standardization across biomedical KGs has left the task of reconciling data sources to downstream consumers. Biolink Model is an open source data model that can be used to formalize the relationships between data structures in translational science. It incorporates object-oriented classification and graph-oriented features. The core of the model is a set of hierarchical, interconnected classes (or categories) and relationships between them (or predicates), representing biomedical entities such as gene, disease, chemical, anatomical structure, and phenotype. The model provides class and edge attributes and associations that guide how entities should relate to one another. Here, we highlight the need for a standardized data model for KGs, describe Biolink Model, and compare it with other models. We demonstrate the utility of Biolink Model in various initiatives, including the Biomedical Data Translator Consortium and the Monarch Initiative, and show how it has supported easier integration and interoperability of biomedical KGs, bringing together knowledge from multiple sources and helping to realize the goals of translational science.

cs.DB

A Simple Standard for Sharing Ontological Mappings (SSSOM)

Despite progress in the development of standards for describing and exchanging scientific information, the lack of easy-to-use standards for mapping between different representations of the same or similar objects in different databases poses a major impediment to data integration and interoperability. Mappings often lack the metadata needed to be correctly interpreted and applied. For example, are two terms equivalent or merely related? Are they narrow or broad matches? Are they associated in some other way? Such relationships between the mapped terms are often not documented, leading to incorrect assumptions and making them hard to use in scenarios that require a high degree of precision (such as diagnostics or risk prediction). Also, the lack of descriptions of how mappings were done makes it hard to combine and reconcile mappings, particularly curated and automated ones. The Simple Standard for Sharing Ontological Mappings (SSSOM) addresses these problems by: 1. Introducing a machine-readable and extensible vocabulary to describe metadata that makes imprecision, inaccuracy and incompleteness in mappings explicit. 2. Defining an easy to use table-based format that can be integrated into existing data science pipelines without the need to parse or query ontologies, and that integrates seamlessly with Linked Data standards. 3. Implementing open and community-driven collaborative workflows designed to evolve the standard continuously to address changing requirements and mapping practices. 4. Providing reference tools and software libraries for working with the standard. In this paper, we present the SSSOM standard, describe several use cases, and survey some existing work on standardizing the exchange of mappings, with the goal of making mappings Findable, Accessible, Interoperable, and Reusable (FAIR). The SSSOM specification is at http://w3id.org/sssom/spec.

cs.DB

Enabling Longitudinal Exploratory Analysis of Clinical COVID Data

As the COVID-19 pandemic continues to impact the world, data is being gathered and analyzed to better understand the disease. Recognizing the potential for visual analytics technologies to support exploratory analysis and hypothesis generation from longitudinal clinical data, a team of collaborators worked to apply existing event sequence visual analytics technologies to a longitudinal clinical data from a cohort of 998 patients with high rates of COVID-19 infection. This paper describes the initial steps toward this goal, including: (1) the data transformation and processing work required to prepare the data for visual analysis, (2) initial findings and observations, and (3) qualitative feedback and lessons learned which highlight key features as well as limitations to address in future work.

cs.HC

Low-Cost Access to the Deep, High-Cadence Sky: the Argus Optical Array

New mass-produced, wide-field, small-aperture telescopes have the potential to revolutionize ground-based astronomy by greatly reducing the cost of collecting area. In this paper, we introduce a new class of large telescope based on these advances: an all-sky, arcsecond-resolution, 1000-telescope array which builds a simultaneously high-cadence and deep survey by observing the entire sky all night. As a concrete example, we describe the Argus Array, a 5m-class telescope with an all-sky field of view and the ability to reach extremely high cadences using low-noise CMOS detectors. Each 55 GPix Argus exposure covers 20% of the entire sky to g=19.6 each minute and g=21.9 each hour; a high-speed mode will allow sub-second survey cadences for short times. Deep coadds will reach g=23.6 every five nights over 47% of the sky; a larger-aperture array telescope, with an étendue close to the Rubin Observatory, could reach g=24.3 in five nights. These arrays can build two-color, million-epoch movies of the sky, enabling sensitive and rapid searches for high-speed transients, fast-radio-burst counterparts, gravitational-wave counterparts, exoplanet microlensing events, occultations by distant solar system bodies, and myriad other phenomena. An array of O(1,000) telescopes, however, would be one of the most complex astronomical instruments yet built. Standard arrays with hundreds of tracking mounts entail thousands of moving parts and exposed optics, and maintenance costs would rapidly outpace the mass-produced-hardware cost savings compared to a monolithic large telescope. We discuss how to greatly reduce operations costs by placing all optics in a thermally controlled, sealed dome with a single moving part. Coupled with careful software scope control and use of existing pipelines, we show that the Argus Array could become the deepest and fastest Northern sky survey, with total costs below $20M.

astro-ph.IM