Training-Free BioNEL-RAG: Advancing Biomedical Entity Linking through Retrieval-Augmented Generation and Large Language Model
Authors: Ziyi Chen, Hui Liu, Ziyang Ling, Ronald X. Xu, Mingzhai Sun
Organizations: School of Biomedical Engineering, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China · Department of Precision Machinery and Precision Instruments, University of Science and Technology of China, Hefei, China
Biomedical Named Entity Linking (BioNEL) is the task of mapping mentions extracted from biomedical texts to canonical entities or concepts in the standardized knowledge base. Although existing methods have achieved remarkable performance in mapping accuracy, most rely on training with domain-specific datasets, which fundamentally limits their cross-domain adaptability. To address this limitation, we propose BioNEL-RAG, a novel training-free framework that combines retrieval-augmented generation (RAG) with large language models (LLMs). Within this framework, the RAG module focuses on retrieving candidate entities, while the large language model module plays the role of selecting the most appropriate candidate for entity normalization, which is based on the analysis of the mention's context, with the aid of its remarkable text comprehension capabilities. Experimental results demonstrate that BioNEL-RAG achieves performance comparable to existing methods without requiring training on subdomain datasets, whereas these methods necessitate fine-tuning on specific subdomains such as genes, diseases, or chemical compounds.
Figures & tables
Fig. 1: The overall frameworks of BioNEL-RAG. BioNEL-RAG is composed of two core components: Retrieval Augmentation, which is responsible for handling the dictionary and building the knowledge base, and Normalization, which processes the mentions to be normalized.
Fig. 2: Prompt Design for biomedical named entity linking task by LLMs.
NCBI-Disease
BC5CDR-Disease
BC5CDR-Chemical
Average
Acc@1
Acc@5
Acc@1
Acc@5
Acc@1
Acc@5
Acc@1
Acc@5
Sieve-Based [ 10 ]
0.847
-
0.841
-
0.907
-
0.865
-
Taggerone [ 11 ]
0.874
-
0.889
-
0.941
-
0.901
-
BNE [ 12 ]
0.877
-
0.906
-
0.958
-
0.913
-
BioBERT Ranking [ 13 ]
0.891
-
0.913
-
0.947
-
0.917
-
BioSYN [ 1 ]
0.911
0.939
0.924
0.958
0.963
0.972
0.933
0.956
TABLE I: Experimental results of models on three biomedical entity normalization datasets, with accuracy(Acc) serving as the evaluation metrics.
BC2GM-Gene
SMM4H-2017
Acc@1
Acc@5
Acc@1
Acc@5
BioBERT ranking
0.753
0.821
0.339
0.423
BioSYN
0.849
0.926
0.555
0.716
SAPBERT-BioSYN
0.905
0.949
0.606
0.765
Ours
0.914
0.949
0.617
0.786
TABLE II: Experimental results of learning-based models and BioNEL-RAG on unseen datasets.
Biomedical Entity Linking disambiguates mentions to entities in a knowledge base (KB), making it the cornerstone of information extraction pipelines. While embedding-based models are a popular approach for the task, they suffer from a key limitation. They compress mentions (and entities) into a single vector, forcing the model to average away crucial fine-grained differences. We present BELXTR, a novel embedding model based on the multi-vector (a.k.a. late interaction) architecture, which allows to leverage token-level matching information. BELXTR extends the original XTR model to biomedical entity linking by integrating an existing task-specific training objective and exploring active query expansion. Experiments across ten corpora and five KBs show that BELXTR improves upon current state-of-the-art in half of the corpora with an average improvement of 5pp recall@1. The largest gains are reported on the challenging cross-species gene disambiguation subtask, where BELXTR outperforms an LLM-powered retrieve-and-rerank pipeline and closely approaches a specialized rule-based system. Our results highlight multi-vector models as a practical alternative to hard-to-maintain rule-based systems or in scenarios where LLM-based reranking is too costly as in PubMed-scale mining. The code to reproduce our experiments can be found at: https://github.com/sg-wbi/belxtr.
Despite recent progress, Biomedical Entity Linking (BEL) with large language models (LLMs) remains computationally inefficient and challenging to deploy in practical settings. In this work, we demonstrate that instruction-tuning of open-source generative models can offer an effective solution when applied at the re-ranking stage of the BEL pipeline. We propose a set-wise instruction-tuning formulation that enables fast and accurate candidate selection. Our method demonstrates strong performance on multiple BEL benchmarks, yielding significant improvements in linking accuracy (3%-24%) while reducing inference time compared to the state-of-the-art. We integrate our generative re-ranker into BeLink, a modular, end-to-end system designed for practical real-world BEL applications.
Darya Shlyk, Stefano Montanelli, Lawrence Hunter
University of Milan Milan, Italy · University of Chicago Chicago, IL, USA
Cross-lingual biomedical entity linking (BEL) maps mentions in any language to unique identifiers in a biomedical knowledge base, supporting clinical and biomedical NLP applications. We identify two issues affecting current systems. First, the UMLS (Bodenreider,2004) aliases used to train cross-lingual BEL retrievers are heavily skewed toward English, so retrievers generalize poorly to non-English mentions. Second, although context is often necessary for disambiguation, naively injecting context into retrievers trained only to align aliases severely degrades retrieval. We propose BioELX, a retrieve-rerank framework that addresses both issues. For retrieval, we continue training SapBERT_multi (Liu et al., 2021b) using Wikidata-derived cross-lingual alias supervision, forming shared concept neighborhoods across languages. For reranking, we adapt pretrained LLM rerankers to entity linking through mention-anchored prompting, which marks the target mention so that rerankers score candidates with respect to the intended mention rather than other salient tokens in the context. Experiments show that BioELX achieves new state-of-the-art results on four cross-lingual BEL benchmarks, improving Recall@1 by 4.8 to 18.2 percentage points over prior best results, without any task-specific BEL annotations. Our code and resources are available at https://github.com/AI4MedCode/BioELX.
Yi Wang, Corina Dima, Liangyu Zhong +1
Institute for AI, University of Stuttgart · Technical University of Berlin · University of Southampton