arXiv:2410.10144cs.LGcs.AI2024-10

用多任务对比学习统一基因与临床概念的表示,提升生物医学数据融合能力。

Unified Representation of Genomic and Biomedical Concepts through Multi-Task, Multi-Source Contrastive Learning

  • 通过多源对比学习构建基因与临床概念的统一嵌入空间
  • 在多个数据集上实现SNP与疾病/药物关系的精准捕捉
  • 适合生物信息学、精准医疗研究者使用

我们提出GENEREL框架,旨在连接遗传学与生物医学知识库。该框架通过微调语言模型,将临床概念(如疾病、药物)背后的生物学知识注入模型,使其更有效地捕捉复杂的生物医学关系。通过整合患者层面数据、生物医学知识图谱和全基因组关联研究摘要等多源信息,建立包含多种常见SNP的统一嵌入空间,并利用多任务对比学习对齐SNP与临床概念的嵌入表示。这一方法克服了传统编码映射系统在不同数据源间的局限性,使模型能适应多样化的自然语言表达。实验表明,GENEREL可有效捕捉SNP与临床概念之间的细微关系,并区分其相关程度,为生物医学数据整合与发现提供新范式。

原文摘要 · Abstract (English)

We introduce GENomic Encoding REpresentation with Language Model (GENEREL), a framework designed to bridge genetic and biomedical knowledge bases. What sets GENEREL apart is its ability to fine-tune language models to infuse biological knowledge behind clinical concepts such as diseases and medications. This fine-tuning enables the model to capture complex biomedical relationships more effectively, enriching the understanding of how genomic data connects to clinical outcomes. By constructing a unified embedding space for biomedical concepts and a wide range of common SNPs from sources such as patient-level data, biomedical knowledge graphs, and GWAS summaries, GENEREL aligns the embeddings of SNPs and clinical concepts through multi-task contrastive learning. This allows the model to adapt to diverse natural language representations of biomedical concepts while bypassing the limitations of traditional code mapping systems across different data sources. Our experiments demonstrate GENEREL's ability to effectively capture the nuanced relationships between SNPs and clinical concepts. GENEREL also emerges to discern the degree of relatedness, potentially allowing for a more refined identification of concepts. This pioneering approach in constructing a unified embedding system for both SNPs and biomedical concepts enhances the potential for data integration and discovery in biomedical research.

基因组学嵌入表示多任务学习

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