CDEMapper: Enhancing NIH Common Data Element Normalization using Large Language Models

Common Data Elements (CDEs) standardize data collection and sharing across studies, enhancing data interoperability and improving research reproducibility. However, implementing CDEs presents challenges due to the broad range and variety of data elements. This study aims to develop an effective and efficient mapping tool to bridge the gap between local data elements and National Institutes of Health (NIH) CDEs. We propose CDEMapper, a large language model (LLM) powered mapping tool designed to assist in mapping local data elements to NIH CDEs. CDEMapper has three core modules: (1) CDE indexing and embeddings. NIH CDEs were indexed and embedded to support semantic search; (2) CDE recommendations. The tool combines Elasticsearch (BM25 similarity methods) with state of the art GPT services to recommend candidate CDEs and their permissible values; and (3) Human review. Users review and select the NIH CDEs and values that best match their data elements and value sets. We evaluate the tool recommendation accuracy against manually annotated mapping results. CDEMapper offers a publicly available, LLM-powered, and intuitive user interface that consolidates essential and advanced mapping services into a streamlined pipeline. It provides a step by step, quality assured mapping workflow designed with a user-centered approach. The evaluation results demonstrated that augmenting BM25 with GPT embeddings and a ranker consistently enhances CDEMapper mapping accuracy in three different mapping settings across four evaluation datasets. This work opens up the potential of using LLMs to assist with CDE recommendation and human curation when aligning local data elements with NIH CDEs. Additionally, this effort enhances clinical research data interoperability and helps researchers better understand the gaps between local data elements and NIH CDEs.

Relation Extraction Using Large Language Models: A Case Study on Acupuncture Point Locations

In acupuncture therapy, the accurate location of acupoints is essential for its effectiveness. The advanced language understanding capabilities of large language models (LLMs) like Generative Pre-trained Transformers (GPT) present a significant opportunity for extracting relations related to acupoint locations from textual knowledge sources. This study aims to compare the performance of GPT with traditional deep learning models (Long Short-Term Memory (LSTM) and Bidirectional Encoder Representations from Transformers for Biomedical Text Mining (BioBERT)) in extracting acupoint-related location relations and assess the impact of pretraining and fine-tuning on GPT's performance. We utilized the World Health Organization Standard Acupuncture Point Locations in the Western Pacific Region (WHO Standard) as our corpus, which consists of descriptions of 361 acupoints. Five types of relations ('direction_of,' 'distance_of,' 'part_of,' 'near_acupoint,' and 'located_near') (n= 3,174) between acupoints were annotated. Five models were compared: BioBERT, LSTM, pre-trained GPT-3.5, fine-tuned GPT-3.5, as well as pre-trained GPT-4. Performance metrics included micro-average exact match precision, recall, and F1 scores. Our results demonstrate that fine-tuned GPT-3.5 consistently outperformed other models in F1 scores across all relation types. Overall, it achieved the highest micro-average F1 score of 0.92. This study underscores the effectiveness of LLMs like GPT in extracting relations related to acupoint locations, with implications for accurately modeling acupuncture knowledge and promoting standard implementation in acupuncture training and practice. The findings also contribute to advancing informatics applications in traditional and complementary medicine, showcasing the potential of LLMs in natural language processing.