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This benchmark study demonstrates that modern proprietary LLMs, particularly OpenAI O1 and fine-tuned Gemini 2.0 Pro, significantly outperform standard architectures in extracting SNP-phenotype associations from biomedical literature. The findings validate the utility of few-shot learning for sentence-level tasks while highlighting remaining challenges in quantifying association strength without extensive fine-tuning. These results provide a clear roadmap for leveraging large models to accelerate genomic knowledge extraction and clinical research workflows.
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Benchmarking Large Language Models for Biomedical Relation Extraction

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arXiv:2609.19071v1 Announce Type: new Abstract: Extracting SNP-phenotype associations from biomedical literature is vital but challenging. We benchmarked diverse NLP models, including MLMs, hybrid architectures, and state-of-the-art LLMs (Gemini 2.0, OpenAI O-series, Qwen, Mistral), on the SNPPhenA corpus across three tasks: sentence-level, abstract-level, and association strength classification. OpenAI O1 achieved state-of-the-art (SOTA) results using few-shot learning for non-finetuned sentence-level classification (F1 0.89) and established a new SOTA for abstract-level classification (F1 0.82). Association strength classification proved difficult, though fine-tuned Gemini 2.0 Pro performed best (F1 0.60) in the first LLM evaluation of this task. Proprietary LLMs, especially in few-shot (O1) or fine-tuned (Gemini 2.0 Pro) settings, significantly outperformed other models. These findings confirm the power of modern LLMs for genomic knowledge extraction.

Abstract:Extracting SNP-phenotype associations from biomedical literature is vital but challenging. We benchmarked diverse NLP models, including MLMs, hybrid architectures, and state-of-the-art LLMs (Gemini 2.0, OpenAI O-series, Qwen, Mistral), on the SNPPhenA corpus across three tasks: sentence-level, abstract-level, and association strength classification. OpenAI O1 achieved state-of-the-art (SOTA) results using few-shot learning for non-finetuned sentence-level classification (F1 0.89) and established a new SOTA for abstract-level classification (F1 0.82). Association strength classification proved difficult, though fine-tuned Gemini 2.0 Pro performed best (F1 0.60) in the first LLM evaluation of this task. Proprietary LLMs, especially in few-shot (O1) or fine-tuned (Gemini 2.0 Pro) settings, significantly outperformed other models. These findings confirm the power of modern LLMs for genomic knowledge extraction.

Computation and Language (cs.CL)

arXiv:2609.19071 [cs.CL]

(or arXiv:2609.19071v1 [cs.CL] for this version)

https://doi.org/10.48550/arXiv.2609.19071 Focus to learn more arXiv-issued DOI via DataCite (pending registration)

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