GP-GPT: Large Language Model for Gene-Phenotype Mapping
<|reference_start|>GP-GPT: Large Language Model for Gene-Phenotype Mapping: Pre-trained large language models(LLMs) have attracted increasing attention in biomedical domains due to their success in natural language processing. However, the complex traits and heterogeneity of multi-sources genomics data pose significant challenges when adapting these models to the bioinformatics and biomedical field. To address these challenges, we present GP-GPT, the first specialized large language model for genetic-phenotype knowledge representation and genomics relation analysis. Our model is fine-tuned in two stages on a comprehensive corpus composed of over 3,000,000 terms in genomics, proteomics, and medical genetics, derived from multiple large-scale validated datasets and scientific publications. GP-GPT demonstrates proficiency in accurately retrieving medical genetics information and performing common genomics analysis tasks, such as genomics information retrieval and relationship determination. Comparative experiments across domain-specific tasks reveal that GP-GPT outperforms state-of-the-art LLMs, including Llama2, Llama3 and GPT-4. These results highlight GP-GPT's potential to enhance genetic disease relation research and facilitate accurate and efficient analysis in the fields of genomics and medical genetics. Our investigation demonstrated the subtle changes of bio-factor entities' representations in the GP-GPT, which suggested the opportunities for the application of LLMs to advancing gene-phenotype research.<|reference_end|>
@article{lyu2024gp-gpt:,
    title={GP-GPT: Large Language Model for Gene-Phenotype Mapping},
    author={Yanjun Lyu, Zihao Wu, Lu Zhang, Jing Zhang, Yiwei Li, Wei Ruan,
  Zhengliang Liu, Xiaowei Yu, Chao Cao, Tong Chen, Minheng Chen, Yan Zhuang,
  Xiang Li, Rongjie Liu, Chao Huang, Wentao Li, Tianming Liu, Dajiang Zhu},
    journal={arXiv preprint arXiv:2409.09825},
    year={2024},
    archivePrefix={arXiv},
    eprint={2409.09825},
    primaryClass={cs.CL cs.AI}
}