VAIV bio-discovery service using transformer model and retrieval augmented generation
Seonho Kim, Juntae Yoon · BMC Bioinformatics · 2024
AI-generated evidence extraction, verified across multiple analytical personas. Not a substitute for the peer-reviewed original.
This is an AI analysis. Read the peer-reviewed original at the publisher: https://doi.org/10.1186/s12859-024-05903-6
Methodology & findings
Study design
Design science approach combining transformer-based NLP (named entity recognition and relation extraction), neural retrieval augmented generation (RAG), and large language models (LLM).
Primary method
Design science research with modular architecture incorporating: (1) named entity recognition and relation extraction modules, (2) indexing module for efficient retrieval, (3) search and answer generation module using RAG
Main result
The system demonstrated high QA performance with a ROUGE-1 score of 0.912 (F-score) and a BLEU score of 0.795 using only the 2023 PubMed baseline. From 226,241 abstracts, "85,006 diseases, 167,804 chemical compounds/drugs, 143,042 proteins/genes were recognized. Additionally, 663,732 (CPR), 151,193 (DDI), and 302,091 (CDR) pairs were ultimately identified from 2.12 million sentences as exhibiting specific interactions between the entities after excluding recognized false interactions."
Research paradigm
Design science; computational/empirical
Author conclusions
In this work, we introduced a novel biomedical search system that incorporates biomedical entity and relation extraction. It provides an efficient way to find biomedical entities and relations associated with a specific entity from scientific literature. In addition, the system gives an answer for a natural language query through neural search and summarization by RAG (retrieval augmented generation) and LLM. This enables researchers or curators to quickly grasp the research findings of interest within a large collection of research papers. We also emphasize the significance of biomedical text mining and sophisticated search techniques in discovering valuable information from the vast amount of unstructured text data generated in biomedical research.
Risk of bias
Selection bias in source documents: limited to PubMed abstracts (2023 baseline + daily updates), excluding full-text articles and other biomedical databases; Training data bias: T5 slim_dec model trained on ChemProt and DrugProt datasets which may not represent full spectrum of biomedical relations; Entity recognition bias: BioBERT tagger achieved F1-score of 0.86, indicating systematic false negatives/positives in entity extraction; Incomplete relation type coverage: CDR interactions limited to 'potential' only due to insufficient training datasets; CPR:7 and CPR:8 categories noted as having limited training data; Vocabulary/nomenclature bias: acknowledged challenge with entity synonyms, abbreviations, and diverse nomenclature causing inconsistencies; Language bias: system designed for English-language biomedical literature only; Selection bias: Limited to 2023 PubMed abstracts and TTD documents only; does not include full-text articles; NER tagger limitations: Entity recognition tool achieved F1-score of 0.86, introducing potential false negatives/positives; Training data limitations: CDR training dataset comprised only 1,500 abstracts, limiting generalizability for chemical-disease relations; Incomplete interaction detection: System cannot identify interactions mentioned across multiple documents or in full texts; Limited training data for certain interaction types (CPR:7 and CPR:8); Potential NER tagger errors requiring manual dictionary augmentation; Limited CDR dataset availability affecting CDR interaction extraction; Entity ambiguity in biomedical text (e.g., entities that are both drugs and proteins)
Limitations
- The 2023 annual baseline of 219,317 and 6,924 daily update abstracts from PubMed might not provide comprehensive, high-quality information that we need
- The number of recognized interactions is significantly smaller than in CTD because CTD includes inferred interactions, and we only consider abstracts, not the full texts of publications
- In practice, even with a large collection of papers, some crucial knowledge may only be mentioned in a very few papers, making it difficult to discover
- Thus, there are inherent limitations in relying solely on research papers to extract important knowledge
- For CDR task, only potential interactions are recognized, due to the insufficient datasets for training more detailed and specific interaction types.
Open questions raised
- Need for comprehensive, high-quality biomedical literature beyond PubMed abstracts; intention to expand to arXiv (2.4 million articles) and full-text PubMed articles via E-utilities API
- Improvement of neural search through filters like citation counts, journal prestige, and impact factor
- Expansion of named entity types: cell lines, cell types, species, biological processes, body parts
- Expansion of interaction types: Gene-Gene Interactions, Protein-Protein Interactions, Gene-Disease Associations, Protein-Disease Associations, Drug-Metabolite Interactions
- Improved training data availability: better construction and sufficiency of training datasets for relation extraction, especially for CDR interaction types
- Further research on NE tagging and relation extraction accuracy
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