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Journal of the American Medical Informatics Association • Vol 32 • No 4
Deciphering genomic codes using advanced natural language processing techniques: a scoping review
February 2025 • Shuyan Cheng, Yishu Wei, Yiliang Zhou, Zihan Xu, Drew Wright, Jinze Liu, Yifan Peng
Abstract 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 bet…
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