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Leveraging Natural Language Processing to Unravel the Mystery of Life: A Review of NLP Approaches in Genomics, Transcriptomics, and Proteomics (2506.02212v1)

Published 2 Jun 2025 in cs.CL, cs.AI, and q-bio.GN

Abstract: NLP has transformed various fields beyond linguistics by applying techniques originally developed for human language to the analysis of biological sequences. This review explores the application of NLP methods to biological sequence data, focusing on genomics, transcriptomics, and proteomics. We examine how various NLP methods, from classic approaches like word2vec to advanced models employing transformers and hyena operators, are being adapted to analyze DNA, RNA, protein sequences, and entire genomes. The review also examines tokenization strategies and model architectures, evaluating their strengths, limitations, and suitability for different biological tasks. We further cover recent advances in NLP applications for biological data, such as structure prediction, gene expression, and evolutionary analysis, highlighting the potential of these methods for extracting meaningful insights from large-scale genomic data. As LLMs continue to advance, their integration into bioinformatics holds immense promise for advancing our understanding of biological processes in all domains of life.

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Authors (2)
  1. Ella Rannon (1 paper)
  2. David Burstein (8 papers)

Summary

Natural Language Processing in the Analysis of Biological Sequences: A Detailed Examination

The paper "Leveraging Natural Language Processing to Unravel the Mystery of Life: A Review of NLP Approaches in Genomics, Transcriptomics, and Proteomics" by Ella Rannon and David Burstein offers a comprehensive review of the application of NLP methodologies in studying biological sequence data. It discusses the pivotal roles of NLP models in genomics, transcriptomics, and proteomics, analyzing how techniques traditionally reserved for human languages are now being applied to the complex sequences that compose genetic material and proteins.

The authors delve into several categories of NLP models, starting with classical methods like word2vec and fastText, which provide dense vector representations of sequence data. These models, while foundational, are limited by their inability to account for word order and semantic polysemy, important factors when dealing with biological sequences. The discussion then progresses to Long Short-Term Memory (LSTM) networks, which compensate for some of these limitations by processing sequences sequentially to capture context-dependent representations, but still struggle with handling long-range dependencies.

The introduction of transformer architectures marked a paradigm shift, thanks to their capacity for handling sequences in parallel through a self-attention mechanism. This allows transformers to capture dependencies over long sequences more effectively. Yet, they are constrained by quadratic time complexity, which hampers their efficacy over very long sequences common in biological datasets. Recent innovations, such as the Hyena architecture, improve upon these limitations by offering sub-quadratic time complexities, enabling efficient processing of extended context length.

Rannon and Burstein explore the adaptation of these NLP models to biological sequences by considering tokenization strategies. Unlike human language, biological sequences lack clear separators for words and sentences. Therefore, various approaches, like character-level tokenization, k-mer decomposition, and sub-word tokenization (e.g., Byte Pair Encoding), have been adapted to appropriately segment DNA, RNA, and protein sequences for NLP analysis.

These models facilitate numerous tasks, ranging from sequence alignment and structure prediction to functional annotation and gene expression prediction. The review emphasizes that these tasks often necessitate different model architectures and tokenization methods. As such, careful selection is critical based on the nature of the biological data and the specific research objectives.

Strong numerical results include transformer-based models leading the charge in achieving notable performance in bioinformatic tasks like the prediction of transcription factor binding sites, and the Nucleotide Transformer outperforming other models in genomic predictions. The review aligns these successes with an increase in model complexity and capacity, highlighting the crucial role of large pre-trained models that leverage transfer learning to adapt to various biological contexts.

The implications of integrating these advanced NLP approaches into bioinformatics are profound, offering enhanced understanding of molecular and evolutionary biology, improving predictions of gene and protein functions, and unraveling the complex network of interactions at the genomic and proteomic levels. The paper suggests that future AI developments should focus on reducing computational burden and enhancing the scalability of models in order to handle increasingly large datasets typical in biological research.

In summary, this review underscores the transformative impact of NLP techniques adapted to biological sequences and emphasizes the need for ongoing innovation to tackle limitations of current models. This will likely spur further advancements in computational biology, with significant potential implications for personalized medicine, evolutionary studies, and biotechnology. The careful application of NLP in bioinformatics promises to unlock deeper insights into the fundamental processes of life.

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