SchemaLink: An Intelligent Web Editor for LinkML Schema Curation

Motivation: LinkML is a suitable language for the representation of the structural and content constraints of different kinds of biomedical data. Even if it is a quite recent proposal, it has been applied in several biomedical contexts. Developing and maintaining LinkML schemas presents several challenges, particularly for novice curators. Non-expert bio-curators may struggle with LinkML syntax and best practices, requiring significant time and effort to develop well-structured schemas. Results: In this paper we propose SchemaLink, a web-based environment for the graphical construction and enhancement of LinkML schemas that address the following requirements: $(i)$ introduce a graphical language for the specification of LinkML schemas, $(ii)$ make uniform the specification of schemas in similar contexts, $(iii)$ simplify the design and curation processes by exploiting a RAG-based approach to assist curators in creating new schemas from scratch and editing already developed ones. Several experimental analyses show the quality of the produced LinkML schemas through the AI-based editing facilities. Availability and Implementation: SchemaLink is available online at: https://SchemaLink.biodata.di.unimi.it. SchemaLink code and testing data are available as open-source on GitHub at: https://github.com/AnacletoLAB/{schemalink-webapp,schemalink-api}.

FAIR GraphRAG: A Retrieval-Augmented Generation Approach for Semantic Data Analysis

Retrieval-Augmented Generation (RAG) addresses the limitations of Large Language Models (LLMs) when providing responses to domain-specific questions. Graph-based RAG approaches, such as GraphRAG, enhance retrieval by capturing semantic relationships within knowledge graphs (KGs). While the FAIR principles (Findability, Accessibility, Interoperability, and Reusability) are becoming prevalent for scientific data management, especially in complex domains such as medicine, existing RAG approaches lack a structured FAIRification of the underlying knowledge resources. This lack limits their potential for FAIR information retrieval in these domains. To address this gap, we introduce FAIR GraphRAG, a novel framework that integrates FAIR Digital Objects (FDOs) as the fundamental units of a graph-based retrieval system. Each graph node represents an FDO that incorporates core data, metadata, persistent identifiers, and semantic links. We leverage LLMs to support schema construction and automated extraction of content and metadata from data sources. The framework was co-designed by physicians and computer scientists to ensure technical and clinical relevance. We apply FAIR GraphRAG to a biomedical dataset in gastroenterology, demonstrating its applicability to RNA-sequencing data. Beyond ensuring adherence to the FAIR principles, FAIR GraphRAG significantly improves question answering accuracy, coverage, and explainability, particularly for complex queries involving metadata and ontology links. This work shows the feasibility of combining FAIR data practices with graph-based retrieval techniques. We see potential for applying our approach to other specialized fields such as education and business.

DeepPySR -- A Symbolic Regression Framework with Dynamic Pruning, Pareto Selection, and Hierarchical Composition for Real-World Scientific Discovery

Symbolic regression (SR) discovers analytical equations from data, yielding glass-box models with directly interpretable formulas, unlike black-box methods that rely on unstable post-hoc tools such as SHAP or LIME. This transparency is crucial in clinical medicine and social science, but SR faces three challenges: high-dimensional inputs, principled selection of Pareto-front formulae, and data irregularities such as multicollinearity and class imbalance. We introduce DeepPySR, which addresses these issues with a dynamic variable-pruning schedule to remove irrelevant features during search, an exponential Pareto selection criterion that eliminates trade-offs between accuracy and complexity, and a multi-layer architecture for hierarchical symbolic composition. On four Feynman physics benchmarks and seven biomedical and social-science datasets, DeepPySR outperforms PySR and baselines on body fat (R$^2$: 0.794 vs.\ 0.702), heart disease (F1: 0.898 vs.\ 0.787), student performance (R$^2$: 0.964 vs.\ 0.948), and Raine BMI (R$^2$: 0.525 vs.\ 0.370), producing interpretable formulas aligned with domain risk factors.

RetiSEM: Generalising Causal Models for Fragmented Biomedical Data

Learning causal models from fragmented biomedical data is challenging because clinical, molecular, and imaging variables are often incomplete or not jointly observed. We propose RetiSEM, a domain-constrained structural equation modelling (SEM) framework for causal graph recovery and mediation analysis under limited multimodal resources. This proposed work organises variables into biologically informed blocks, applies forbidden-edge constraints, and decomposes pathway-level effects into TE, NDE, and NIE components. We evaluate RetiSEM across ten synthetic benchmark scenarios that vary in dimensionality, nonlinearity, causal depth, and pathway structure, together with a fragmented real-world setting that combines NHANES clinical variables with externally derived retinal representations. This approach achieves lower structural error and higher causal accuracy than unconstrained baselines across the synthetic benchmarks. In the real-data analysis, retinal variables behave mainly as downstream biomarker-like indicators, with smaller but detectable indirect effects. These findings support our strategy as an interpretable framework for testing structured causal hypotheses in limited-resource biomedical AI. The code and resources for this work are publicly available at: https://github.com/Inamullah-Colab/ReitSEM.