MicroRNA bioinformatics in precision oncology: an integrated pipeline from NGS to AI-based target discovery

Mritunjoy Dey1, Piotr Remiszewski2,3, Jakub Piątkowski4

  • 1Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, 02-781, Poland. mritunjoy.dey@nio.gov.pl.

PubMed

Insights

This review integrates bioinformatics, machine learning (ML), and large language models (LLMs) to create a unified pipeline for microRNA (miRNA) analysis in cancer. It aims to accelerate the discovery of reproducible and clinically actionable miRNA biomarkers for precision oncology.

Area of Science:

  • Oncology
  • Bioinformatics
  • Computational Biology

Background:

  • MicroRNA (miRNA) analysis in cancer is fragmented and lacks integration with computational tools.
  • This disjointed approach hinders reproducible and clinically actionable biomarker discovery.
  • A unified methodology is needed to advance miRNA-based cancer research.

Purpose of the Study:

  • To present a comprehensive review unifying bioinformatics, machine learning (ML), and large language models (LLMs) for miRNA analysis in oncology.
  • To bridge the methodological gap in current miRNA biomarker discovery.
  • To provide a strategic roadmap for developing miRNA-based precision cancer diagnostics and therapeutics.

Main Methods:

  • Synthesizing and benchmarking algorithms like miRDeep2 and DIANA-miRPath for next-generation sequencing (NGS) data processing and multi-omics integration.
  • Reviewing ML-augmented layers, including support vector machines (SVMs), convolutional neural networks (CNNs), and recurrent neural networks (RNNs), for miRNA signature identification and target prediction.
  • Exploring generative models and LLMs for hypothesis generation and enhanced reproducibility in biomarker discovery workflows.

Main Results:

  • A unified pipeline integrating diverse computational tools for miRNA analysis in cancer.
  • Demonstration of ML and LLM applications for robust miRNA signature identification, classification, and target prediction.
  • Contextualization of the framework with cancer-specific datasets for translational applications.

Conclusions:

  • The proposed AI-enhanced framework provides a scalable and reproducible pipeline for miRNA biomarker discovery.
  • This systematic organization of fragmented methodologies accelerates the development of miRNA-based precision cancer medicine.
  • The review offers a strategic roadmap to translate miRNA findings into clinical applications for early detection, prognosis, and therapy selection.

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