Zihan Xu

Shuyan Cheng, Yishu Wei, Yiliang Zhou et al.

Objectives: The vast and complex nature of human genomic sequencing data presents challenges for effective analysis. This review aims to investigate the application of Natural Language Processing (NLP) techniques, particularly Large Language Models (LLMs) and transformer architectures, in deciphering genomic codes, focusing on tokenization, transformer models, and regulatory annotation prediction. The goal of this review is to assess data and model accessibility in the most recent literature, gaining a better understanding of the existing capabilities and constraints of these tools in processing genomic sequencing data. Methods: Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, our scoping review was conducted across PubMed, Medline, Scopus, Web of Science, Embase, and ACM Digital Library. Studies were included if they focused on NLP methodologies applied to genomic sequencing data analysis, without restrictions on publication date or article type. Results: A total of 26 studies published between 2021 and April 2024 were selected for review. The review highlights that tokenization and transformer models enhance the processing and understanding of genomic data, with applications in predicting regulatory annotations like transcription-factor binding sites and chromatin accessibility. Discussion: The application of NLP and LLMs to genomic sequencing data interpretation is a promising field that can help streamline the processing of large-scale genomic data while also providing a better understanding of its complex structures. It has the potential to drive advancements in personalized medicine by offering more efficient and scalable solutions for genomic analysis. Further research is also needed to discuss and overcome current limitations, enhancing model transparency and applicability.

Zihan Xu, Haotian Ma, Gongbo Zhang et al.

Evidence-based medicine (EBM) is at the forefront of modern healthcare, emphasizing the use of the best available scientific evidence to guide clinical decisions. Due to the sheer volume and rapid growth of medical literature and the high cost of curation, there is a critical need to investigate Natural Language Processing (NLP) methods to identify, appraise, synthesize, summarize, and disseminate evidence in EBM. This survey presents an in-depth review of 129 research studies on leveraging NLP for EBM, illustrating its pivotal role in enhancing clinical decision-making processes. The paper systematically explores how NLP supports the five fundamental steps of EBM -- Ask, Acquire, Appraise, Apply, and Assess. The review not only identifies current limitations within the field but also proposes directions for future research, emphasizing the potential for NLP to revolutionize EBM by refining evidence extraction, evidence synthesis, appraisal, summarization, enhancing data comprehensibility, and facilitating a more efficient clinical workflow.