Gene-R1: Reasoning with Data-Augmented Lightweight LLMs for Gene Set Analysis
On the map: LLM reasoning → Clinical and biomedical applications
Abstract (arXiv)
The gene set analysis (GSA) is a foundational approach for uncovering the molecular functions associated with a group of genes. Recently, LLM-powered methods have emerged to annotate gene sets with biological functions together with coherent explanatory insights. However, existing studies primarily focus on proprietary models, which have been shown to outperform their open-source counterparts despite concerns over cost and data privacy. Furthermore, no research has investigated the application of advanced reasoning strategies to the GSA task. To address this gap, we introduce Gene-R1, a data-augmented learning framework that equips lightweight and open-source LLMs with step-by-step reasoning capabilities tailored to GSA. Experiments on 1,508 in-distribution gene sets demonstrate that Gene-R1 achieves substantial performance gains, matching commercial LLMs. On 106 out-of-distribution gene sets, Gene-R1 performs comparably to both commercial and large-scale LLMs, exhibiting robust generalizability across diverse gene sources.
Key facts. Cited by 2 papers in the map (data through 14 Oct 2026). Placed in Clinical and biomedical applications, one of 17 directions in LLM reasoning. Builds on 18 of its 39 references that are in the map. First posted on arXiv 11 Sep 2025.
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Other references · 17
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- 2025Injecting Domain-Specific Knowledge into Large Language Models: A Comprehensive Surveycited by 51
5 more
- 2024Online DPO: Online Direct Preference Optimization with Fast-Slow Chasingcited by 39
- 2023Evaluation of large language models for discovery of gene set functioncited by 14
- 2023Gene Set Summarization using Large Language Modelscited by 12
- 2024Re2LLM: Reflective Reinforcement Large Language Model for Session-based Recommendationcited by 8
- 2024Ensuring Safety and Trust: Analyzing the Risks of Large Language Models in Medicinecited by 7
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Citing papers per year: 2026: 2.
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- 2024Long-range gene expression prediction with token alignment of large language model
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