From Large Language Models to Knowledge Graphs for Biomarker Discovery in Cancer

Domain experts often rely on most recent knowledge for apprehending and disseminating specific biological processes that help them design strategies for developing prevention and therapeutic decision-making in various disease scenarios. A challenging scenarios for AI is using biomedical data (e.g., texts, imaging, omics, and clinical) to provide diagnosis and treatment recommendations for cancerous conditions.~Data and knowledge about biomedical entities like cancer, drugs, genes, proteins, and their mechanism is spread across structured (knowledge bases (KBs)) and unstructured (e.g., scientific articles) sources. A large-scale knowledge graph (KG) can be constructed by integrating and extracting facts about semantically interrelated entities and relations. Such a KG not only allows exploration and question answering (QA) but also enables domain experts to deduce new knowledge. However, exploring and querying large-scale KGs is tedious for non-domain users due to their lack of understanding of the data assets and semantic technologies. In this paper, we develop a domain KG to leverage cancer-specific biomarker discovery and interactive QA. For this, we constructed a domain ontology called OncoNet Ontology (ONO), which enables semantic reasoning for validating gene-disease (different types of cancer) relations. The KG is further enriched by harmonizing the ONO, metadata, controlled vocabularies, and biomedical concepts from scientific articles by employing BioBERT- and SciBERT-based information extractors. Further, since the biomedical domain is evolving, where new findings often replace old ones, without having access to up-to-date scientific findings, there is a high chance an AI system exhibits concept drift while providing diagnosis and treatment. Therefore, we fine-tune the KG using LLMs based on more recent articles and KBs.