Abstract:Large Language Models (LLMs) and Large Multi-Modal Models (LMMs) have emerged as transformative tools in scientific research, yet their reliability and specific contributions to biomedical applications remain insufficiently characterized. In this study, we present \textbf{AR}tificial \textbf{I}ntelligence research assistant for \textbf{E}xpert-involved \textbf{L}earning (ARIEL), a multimodal dataset designed to benchmark and enhance two critical capabilities of LLMs and LMMs in biomedical research: summarizing extensive scientific texts and interpreting complex biomedical figures. To facilitate rigorous assessment, we create two open-source sets comprising biomedical articles and figures with designed questions. We systematically benchmark both open- and closed-source foundation models, incorporating expert-driven human evaluations conducted by doctoral-level experts. Furthermore, we improve model performance through targeted prompt engineering and fine-tuning strategies for summarizing research papers, and apply test-time computational scaling to enhance the reasoning capabilities of LMMs, achieving superior accuracy compared to human-expert corrections. We also explore the potential of using LMM Agents to generate scientific hypotheses from diverse multimodal inputs. Overall, our results delineate clear strengths and highlight significant limitations of current foundation models, providing actionable insights and guiding future advancements in deploying large-scale language and multi-modal models within biomedical research.
Abstract:Discovering genes with similar functions across diverse biomedical contexts poses a significant challenge in gene representation learning due to data heterogeneity. In this study, we resolve this problem by introducing a novel model called Multimodal Similarity Learning Graph Neural Network, which combines Multimodal Machine Learning and Deep Graph Neural Networks to learn gene representations from single-cell sequencing and spatial transcriptomic data. Leveraging 82 training datasets from 10 tissues, three sequencing techniques, and three species, we create informative graph structures for model training and gene representations generation, while incorporating regularization with weighted similarity learning and contrastive learning to learn cross-data gene-gene relationships. This novel design ensures that we can offer gene representations containing functional similarity across different contexts in a joint space. Comprehensive benchmarking analysis shows our model's capacity to effectively capture gene function similarity across multiple modalities, outperforming state-of-the-art methods in gene representation learning by up to 97.5%. Moreover, we employ bioinformatics tools in conjunction with gene representations to uncover pathway enrichment, regulation causal networks, and functions of disease-associated or dosage-sensitive genes. Therefore, our model efficiently produces unified gene representations for the analysis of gene functions, tissue functions, diseases, and species evolution.