ArticleJournal of the American Medical Informatics Association : JAMIA2025
Deciphering genomic codes using advanced natural language processing techniques: a scoping review.
Article in Journal of the American Medical Informatics Association : JAMIA, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
5 citing papers in PubMed.
- Leveraging Artificial Intelligence to Advance Bioinformatics in Africa: Opportunities, Challenges, and Ethical Considerations in Combating Antimicrobial Resistance.Bioinformatics and biology insights · 2026Article
- Integrating dual convolutional networks and BiLSTM for precision prediction of chronic myeloid leukemia from protein sequences.Frontiers in genetics · 2026Article
- Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Artificial intelligence for comprehensive DNA methylation analysis: overview, challenges, and future directions.Briefings in bioinformatics · 2025Review
- Advancing the application and evaluation of large language models in health and biomedicine.Journal of the American Medical Informatics Association : JAMIA · 2025Article
Corrections and comments
- Update of
Authors and funding
7 authors.
Funding
Abstract
objectivesThe 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. MATERIALS AND
methodsFollowing 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.
resultsA 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.
conclusionThis review highlights the growing role of NLP, particularly LLMs, in genomic sequencing data analysis. While these models improve data processing and regulatory annotation prediction, challenges remain in accessibility and interpretability. Further research is needed to refine their application in genomics.
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Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.