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Artificial Intelligence in genomics: a comprehensive survey of methods, resources, challenges, and prospects.

📅 May 4, 2026 👤 Ishtyaq Mahmud Md, Banerjee Tania 📖 Briefings in bioinformatics

🤖 Plain-English Summary

Artificial intelligence (AI) is reshaping genomics by enabling unprecedented insights into disease mechanisms, therapeutic design, and precision medicine. Integrating multi-omics data through advanced architectures, such as graph neural networks and multimodal DL promises deeper biological understanding.

🔑 Key Findings

  • This review provides a comprehensive survey of cutting-edge AI methodologies, including machine learning, deep learning (DL), natural language processing, large language models, generative frameworks, and explainable AI, and their applications across genomics.
  • We systematically summarize how these technologies advance key domains, such as gene sequencing, variant detection, gene expression analysis, personalized medicine, and CRISPR-based genome editing.
  • Core computational tools, benchmark datasets, and open-source frameworks supporting AI-driven genomic research are detailed.

💡 Why This Matters

Understanding this could lead to better treatments, improved diagnostics, or a deeper grasp of how the human body works — benefiting patient care globally.

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📋 Article Details

Category 🧬 Medicine & Biology
Published May 04, 2026
Journal Briefings in bioinformatics
Authors Ishtyaq Mahmud Md, Banerjee Tania
DOI 10.1093/bib/bbag229
Source PubMed

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