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Updated: Sep 8, 2025

Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons
Published on: August 29, 2014
Integrating Artificial Intelligence in Next-Generation Sequencing: Advances, Challenges, and Future Directions
Konstantina Athanasopoulou1, Vasiliki-Ioanna Michalopoulou1, Andreas Scorilas1
1Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, 15701 Athens, Greece.
Artificial intelligence (AI) enhances next-generation sequencing (NGS) for genomics, improving data analysis and applications. AI integration in NGS accelerates discovery in cancer research and drug development, paving the way for precision medicine.
Area of Science:
- Genomics and Bioinformatics
- Artificial Intelligence in Life Sciences
Background:
- Next-generation sequencing (NGS) generates vast amounts of genomic data.
- Artificial intelligence (AI) offers powerful tools for analyzing complex biological datasets.
- The synergy between AI and NGS promises to revolutionize genomic research and clinical practice.
Purpose of the Study:
- To review the transformative impact of AI integration in NGS workflows.
- To highlight key applications and challenges of AI in genomics.
- To discuss future directions for AI in sequencing technologies.
Main Methods:
- Review of AI-driven tools (machine learning, deep learning) applied to NGS.
- Analysis of AI models (CNNs, RNNs) for genomic data analysis.
- Exploration of AI's role in third-generation sequencing (TGS).
Main Results:
- AI significantly enhances NGS applications like variant calling, epigenomics, and transcriptomics.
- AI-powered tools improve accuracy and scalability in genomic data analysis.
- AI facilitates precision medicine through cancer research and drug discovery.
Conclusions:
- AI integration in NGS presents significant advancements but faces challenges in data heterogeneity and interpretability.
- Future work should focus on federated learning, interpretable AI, and multi-modal data integration.
- AI and NGS collaboration will drive precision medicine and scalable genomic insights.
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