Mónica Muñoz-Torres

J Harry Caufield, Tim Putman, Kevin Schaper et al. · berkeley

Knowledge graphs (KGs) are a powerful approach for integrating heterogeneous data and making inferences in biology and many other domains, but a coherent solution for constructing, exchanging, and facilitating the downstream use of knowledge graphs is lacking. Here we present KG-Hub, a platform that enables standardized construction, exchange, and reuse of knowledge graphs. Features include a simple, modular extract-transform-load (ETL) pattern for producing graphs compliant with Biolink Model (a high-level data model for standardizing biological data), easy integration of any OBO (Open Biological and Biomedical Ontologies) ontology, cached downloads of upstream data sources, versioned and automatically updated builds with stable URLs, web-browsable storage of KG artifacts on cloud infrastructure, and easy reuse of transformed subgraphs across projects. Current KG-Hub projects span use cases including COVID-19 research, drug repurposing, microbial-environmental interactions, and rare disease research. KG-Hub is equipped with tooling to easily analyze and manipulate knowledge graphs. KG-Hub is also tightly integrated with graph machine learning (ML) tools which allow automated graph machine learning, including node embeddings and training of models for link prediction and node classification.

Sabrina Toro, Anna V Anagnostopoulos, Sue Bello et al. · berkeley

Background: Ontologies are fundamental components of informatics infrastructure in domains such as biomedical, environmental, and food sciences, representing consensus knowledge in an accurate and computable form. However, their construction and maintenance demand substantial resources and necessitate substantial collaboration between domain experts, curators, and ontology experts. We present Dynamic Retrieval Augmented Generation of Ontologies using AI (DRAGON-AI), an ontology generation method employing Large Language Models (LLMs) and Retrieval Augmented Generation (RAG). DRAGON-AI can generate textual and logical ontology components, drawing from existing knowledge in multiple ontologies and unstructured text sources. Results: We assessed performance of DRAGON-AI on de novo term construction across ten diverse ontologies, making use of extensive manual evaluation of results. Our method has high precision for relationship generation, but has slightly lower precision than from logic-based reasoning. Our method is also able to generate definitions deemed acceptable by expert evaluators, but these scored worse than human-authored definitions. Notably, evaluators with the highest level of confidence in a domain were better able to discern flaws in AI-generated definitions. We also demonstrated the ability of DRAGON-AI to incorporate natural language instructions in the form of GitHub issues. Conclusions: These findings suggest DRAGON-AI's potential to substantially aid the manual ontology construction process. However, our results also underscore the importance of having expert curators and ontology editors drive the ontology generation process.

Harry Caufield, Satrajit Ghosh, Sek Wong Kong et al.

AI-readiness describes the degree to which data may be optimally and ethically used for subsequent AI and Machine Learning (AI/ML) methods, where those methods may involve some combination of model training, data classification, and ethical, explainable prediction. The Bridge2AI consortium has defined the particular criteria a biomedical dataset may possess to render it AI-ready: in brief, a dataset's readiness is related to its FAIRness, provenance, degree of characterization, explainability, sustainability, and computability, in addition to its accompaniment with documentation about ethical data practices. To ensure AI-readiness and to clarify data structure and relationships within Bridge2AI's Grand Challenges (GCs), particular types of metadata are necessary. The GCs within the Bridge2AI initiative include four data-generating projects focusing on generating AI/ML-ready datasets to tackle complex biomedical and behavioral research problems. These projects develop standardized, multimodal data, tools, and training resources to support AI integration, while addressing ethical data practices. Examples include using voice as a biomarker, building interpretable genomic tools, modeling disease trajectories with diverse multimodal data, and mapping cellular and molecular health indicators across the human body. This report assesses the state of metadata creation and standardization in the Bridge2AI GCs, provides guidelines where required, and identifies gaps and areas for improvement across the program. New projects, including those outside the Bridge2AI consortium, would benefit from what we have learned about creating metadata as part of efforts to promote AI readiness.