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Artificial intelligence (AI) is transforming many fields, including healthcare and medicine. In biomarker discovery, AI algorithms have had a profound impact, thanks to their ability to derive insights from complex high-dimensional datasets and integrate multi-modal datatypes (such as omics, electronic health records, imaging or sensor and wearable data). However, despite the proliferation of AI-powered biomarkers, significant hurdles still remain in translating them to the clinic and driving adoption, including lack of population diversity, difficulties accessing harmonised data, costly and time-consuming clinical studies, evolving AI regulatory frameworks and absence of scalable diagnostic infrastructure. Here, we provide an overview of the AI toolkit available for biomarker discovery, and we discuss exciting examples of AI-powered biomarkers across therapeutic areas. Finally, we address the challenges ahead of us to ensure that these technologies reach patients and users globally and unlock a new era of fast innovation for precision medicine.
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http://dx.doi.org/10.1042/ETLS20243003 | DOI Listing |
Environ Epigenet
May 2025
Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institut pour l'Avancée des Biosciences (IAB), Team of Environmental Epidemiology Applied to Development and Respiratory Health, 38000 Grenoble, France.
An increasing number of epigenome-wide association studies report tobacco smoking-associated DNA methylation levels. However, comprehensive replication studies remain scarce, particularly in placenta, despite their crucial interest in such a large-scale context. Using DNA methylation data from the EPIC array of 341 new placentas (85 smokers, 219 non-smokers, and 37 former smokers) from the EDEN cohort, we used a candidate approach to replicate maternal smoking-associated CpGs and regions previously identified using the 450K array, and an exploratory approach to discover new associations within EPIC-specific CpGs.
View Article and Find Full Text PDFVet World
July 2025
Department of Veterinary Science, Faculty of Veterinary Medicine, Rajamangala University of Technology Tawan-OK, Chonburi, Thailand.
Background And Aim: Granulosa cells (GCs) are crucial mediators of follicular development and oocyte competence in goats, with their gene expression profiles serving as potential biomarkers of fertility. However, the lack of a standardized, quantifiable method to assess GC quality using transcriptomic data has limited the translation of such findings into reproductive applications. This study aimed to develop a hybrid deep learning model integrating one-dimensional convolutional neural networks (1DCNNs) and gated recurrent units (GRUs) to classify GCs as fertility-supporting (FS) or non-fertility-supporting (NFS) using single-cell RNA sequencing (scRNA-seq) data.
View Article and Find Full Text PDFNoncoding RNA Res
December 2025
Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH, USA.
Purpose: To verify the stability and reliability of circulating microRNA (miRNA) profiles in plasma and serum under different processing and storage conditions to inform future applications to circulating biomarker analyses.
Background: The development of blood-based methods for early disease detection has become increasingly desirable across various medical fields. RNA profiles have been investigated but have been a challenge due to rapid degradation of the analyte by ubiquitous RNases.
Chemistry
September 2025
Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Charlestown, MA, 02129, USA.
Nucleic acid-based therapeutics, such as oncolytic virotherapy or gene therapy, would benefit greatly from a reporter gene that induces endogenous production of a protein biomarker to noninvasively track the delivery, persistence, and spread with imaging. Several chemical exchange saturation transfer (CEST) reporter proteins detectable by magnetic resonance imaging (MRI) have been demonstrated to have high sensitivity. However, to date none can provide strong CEST contrast at a distinct resonance from that of endogenous proteins, limiting their specificity.
View Article and Find Full Text PDFCurr Gene Ther
September 2025
Department of Hepatobiliary and Pancreatic Surgery, Affiliated Hospital of Nantong University, Medical School of Nantong University, Nantong, 226001, Jiangsu, China.
Introduction: Pancreatic Cancer (PC) is recognized as a highly aggressive malignancy and is anticipated to become the second leading cause of cancer-associated deaths across the United States by 2030. Owing to its late-stage diagnosis and the substantial risk of metastasis, current therapeutic strategies exhibit limited efficacy, resulting in a five-year survival rate below 10%. Consequently, identifying reliable biomarkers and therapeutic approaches remains imperative for enhancing treatment effectiveness.
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