AI-Driven Precision Medicine: Innovations in Diagnosis, Prognosis, and Management Response

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Machine Learning and Artificial Intelligence in Diagnostics".

Deadline for manuscript submissions: 30 April 2026 | Viewed by 4256

Special Issue Editor


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Guest Editor
1. Department of Colorectal Surgery, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
2. Guangdong Institute of Gastroenterology, Guangdong Provincial Key Laboratory of Colorectal and Pelvic Floor Diseases, Guangzhou, China
Interests: artificial intelligence; colorectal cancer; genomics; translational medicine
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Special Issue Information

Dear Colleagues,

The management of complex diseases remains a significant global health challenge, with their inherent heterogeneity demanding more effective and personalized clinical strategies. The integration of artificial intelligence (AI) is rapidly transforming the landscape of healthcare, offering unprecedented opportunities for innovation in diagnostics, prognostics, and therapeutic guidance. This Special Issue aims to bring together cutting-edge research on AI-powered solutions that advance the paradigm of precision medicine. We welcome original research articles and comprehensive reviews that explore the development, validation, and clinical application of AI algorithms.

Topics of interest include, but are not limited to, the following:

  • AI in medical image analysis (e.g., radiology, pathology) for lesion detection, segmentation, and classification.
  • The application of large language models (LLMs) for structuring electronic health records and generating clinical decision support insights.
  • The use of machine learning for predicting treatment response and identifying resistance mechanisms from multi-omics data.
  • The development of novel prognostic and predictive biomarkers using deep learning.
  • AI-powered tools for personalized risk stratification and disease progression modeling.

This collection seeks to showcase how AI is paving the way for more precise, personalized, and timely management across a wide spectrum of diseases.

Prof. Dr. Feng Gao
Guest Editor

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Keywords

  • precision medicine
  • artificial intelligence
  • clinical decision support
  • deep learning
  • large language models (LLMs)
  • prognosis prediction
  • medical imaging

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Published Papers (5 papers)

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Research

19 pages, 1661 KB  
Article
AI-Driven Predictions of Readmission and Mortality for Improved Discharge Decisions in Critical Care: A Retrospective Study
by Yeonjeong Heo, Minkyu Kim, Seon-Sook Han, Tae-Hoon Kim, Jeongwon Heo, Dohyun Kim, Woo Jin Kim, Seung-Joon Lee, Oh Beom Kwon, Yoon Kim, Hyun-Soo Choi and Da Hye Moon
Diagnostics 2026, 16(6), 874; https://doi.org/10.3390/diagnostics16060874 - 16 Mar 2026
Viewed by 399
Abstract
Background/Objectives: The transition from the intensive care unit (ICU) to the hospital ward is a critical high-risk period for patients. Early ICU discharge reduces costs and frees up ICU resources but can lead to readmission or unexpected death if patients are discharged [...] Read more.
Background/Objectives: The transition from the intensive care unit (ICU) to the hospital ward is a critical high-risk period for patients. Early ICU discharge reduces costs and frees up ICU resources but can lead to readmission or unexpected death if patients are discharged prematurely. Despite the availability of risk stratification tools such as the Stability and Workload Index for Transfer (SWIFT) score, predicting ICU readmission remains challenging and inconsistent. However, artificial intelligence (AI) and machine learning (ML) techniques have recently shown promise in improving clinical decision support systems, particularly in the ICU. This study aimed to identify the risk factors and assess the performance of AI models in predicting readmission or death within seven days of ICU discharge using the MIMIC-IV (between 2008 and 2019) and Kangwon National University Hospital (KNUH, between 1 January 2016 and 28 February 2023) databases. Methods: This retrospective cohort study utilized the MIMIC-IV database for model training and internal validation and the KNUH database for external validation. Various machine learning and deep learning models have been developed to predict ICU readmission or death within seven days of discharge. The performance of the primary model, GRU-D++, was compared to the SWIFT score. Statistical analysis focused on the area under the receiver operating characteristic curve (AUROC) data to evaluate model accuracy. Results: The GRU-D++ model outperformed the SWIFT score, achieving AUROC of 0.802 and 0.756 for internal and external validations, respectively. Both datasets demonstrated that the GRU-D++ model provided better predictive performance for ICU readmission or death within seven days than the traditional SWIFT score. Conclusions: Our findings suggest that the GRU-D++ deep learning model is a valuable tool for the early detection of patient deterioration after ICU discharge, potentially aiding the prevention of ICU readmission. This study highlights the potential of AI to improve clinical decision-making in intensive care settings. Full article
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19 pages, 2935 KB  
Article
Translating Molecular Subtypes into Cost-Effective Radiogenomic Biomarkers for Prognosis of Colorectal Cancer
by Baowen Gai, Xin Duan, Chenghang Li, Chuling Hu, Minyi Lv, Jiaxin Lei, Runxian Wang, Feng Gao and Du Cai
Diagnostics 2026, 16(2), 273; https://doi.org/10.3390/diagnostics16020273 - 14 Jan 2026
Viewed by 535
Abstract
Background: Colorectal cancer (CRC) is currently the third most common cancer worldwide, with high heterogeneity and poor prognosis. Gene expression-based molecular subtypes can effectively dissect tumor heterogeneity, but their clinical translation remains challenging. This study aims to conduct radiogenomic analysis regarding molecular subtypes [...] Read more.
Background: Colorectal cancer (CRC) is currently the third most common cancer worldwide, with high heterogeneity and poor prognosis. Gene expression-based molecular subtypes can effectively dissect tumor heterogeneity, but their clinical translation remains challenging. This study aims to conduct radiogenomic analysis regarding molecular subtypes and establish prognostic signatures for survival prediction of colorectal cancer. Methods: In this retrospective study involving 2948 CRC patients from 8 cohorts, we utilized a supervised deep learning framework to extract quantitative feature representations of molecular subtypes. Through correlation analysis, we selected key gene expression features related to these subtypes to establish a prognostic signature. A similar pipeline was applied to derive a non-invasive radiomic prognostic signature. Finally, we validated the prognostic value of both signatures in multiple cohorts and explored their biological interpretation. Results: We successfully established a molecular subtype-associated gene signature and a non-invasive radiogenomic signature. The gene signature classified patients into high-risk and low-risk groups with significantly different prognoses. The low-risk group had a better prognosis and showed a greater potential benefit from immunotherapy. Similarly, the radiogenomic signature exhibited characteristics related to molecular subtypes and comparable performance in prognostic prediction. Multivariate analysis confirmed the independent prognostic value of both signatures. In summary, this retrospective study demonstrates that our framework translates molecular subtypes into cost-effective biomarkers for risk stratification and treatment guidance. Full article
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20 pages, 1535 KB  
Article
ConvNeXt-Driven Detection of Alzheimer’s Disease: A Benchmark Study on Expert-Annotated AlzaSet MRI Dataset Across Anatomical Planes
by Mahdiyeh Basereh, Matthew Alexander Abikenari, Sina Sadeghzadeh, Trae Dunn, René Freichel, Prabha Siddarth, Dara Ghahremani, Helen Lavretsky and Vivek P. Buch
Diagnostics 2025, 15(23), 2997; https://doi.org/10.3390/diagnostics15232997 - 25 Nov 2025
Cited by 2 | Viewed by 1181
Abstract
Background: Alzheimer’s disease (AD) is a leading worldwide cause of cognitive impairment, necessitating accurate, inexpensive diagnostic tools to enable early recognition. Methods: In this study, we present a robust deep learning approach for AD classification based on structural MRI scans, ConvNeXt, an emergent [...] Read more.
Background: Alzheimer’s disease (AD) is a leading worldwide cause of cognitive impairment, necessitating accurate, inexpensive diagnostic tools to enable early recognition. Methods: In this study, we present a robust deep learning approach for AD classification based on structural MRI scans, ConvNeXt, an emergent convolutional architecture inspired by vision transformers. We introduce AlzaSet, a clinically curated T1-weighted MRI dataset of 79 subjects (63 with Alzheimer’s disease [AD], 16 cognitively normal controls [NC]) acquired on a 1.5 T Siemens Aera in axial, coronal, and sagittal planes, respectively (12,947 slices in total). Images are neuroradiologist-labeled. Results are reported per plane, with awareness of the class imbalance at the subject level. We further present AlzaSet, a novel, expertly labeled clinical dataset with axial, coronal, and sagittal perspectives from AD and cognitively normal control subjects. Three ConvNeXt sizes (Tiny, Small, Base) were compared and benchmarked against existing state-of-the-art CNN models (VGG16, VGG19, InceptionV3, DenseNet121). Results: ConvNeXt-Base consistently outperformed the other models on coronal slices with an accuracy of 98.37% and an AUC of 0.992. Coronal views were determined to be most diagnostically informative, with emphasis on visualization of the medial temporal lobe. Moreover, comparison with recent ensemble-based techniques showed superior performance with comparable computational efficiency. Conclusions: These results indicate that ConvNeXt-capable models applied to clinically curated datasets have strong potential to provide scalable, real-time AD screening in diverse settings, including both high-resource and resource-constrained settings. Full article
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16 pages, 3440 KB  
Article
Multimodal-Imaging-Based Interpretable Deep Learning Framework for Distinguishing Brucella from Tuberculosis Spondylitis: A Dual-Center Study
by Mayidili Nijiati, Mei Zhang, Chencui Huang, Xinyue Chou, Lingyan Shen, Haiting Ma, Zhenwei Ren, Maimaitishawutiaji Maimaiti, Yi You, Xiaoguang Zou and Yunling Wang
Diagnostics 2025, 15(23), 2963; https://doi.org/10.3390/diagnostics15232963 - 22 Nov 2025
Viewed by 860
Abstract
Objectives: Brucella spondylitis (BS) and tuberculosis spondylitis (TS) are two causes of infection that share overlapping clinical and imaging features, complicating diagnoses. Early differentiation is critical, as treatment regimens differ significantly. This study aims to develop a deep learning framework using multimodal computed [...] Read more.
Objectives: Brucella spondylitis (BS) and tuberculosis spondylitis (TS) are two causes of infection that share overlapping clinical and imaging features, complicating diagnoses. Early differentiation is critical, as treatment regimens differ significantly. This study aims to develop a deep learning framework using multimodal computed tomography (CT) and magnetic resonance imaging (MRI) data to accurately distinguish between these two conditions, improving diagnostic accuracy and patient outcomes. Methods: In this study, imaging data were acquired from two centers using different MRI and CT protocols. Sagittal T1-weighted (T1WI) and T2-weighted imaging (T2WI), fat-suppression sequences (T2WI FSE), and sagittal CT data were collected. Image preprocessing included region of interest (ROI) segmentation, and normalization and augmentation techniques were used. A deep learning model, based on pre-trained GoogleNet architectures, was trained and evaluated against human radiologists using metrics including accuracy, sensitivity, and AUC to assess diagnostic performance. Results: In this study, the GoogleNet deep learning model outperformed other architectures in classifying TS and BS, achieving AUCs of 95.97%, 91.24%, and 81.25% across training, test, and external validation datasets, respectively. In contrast, ResNet, DenseNet, and EfficientNet models showed lower AUC values. GoogleNet also demonstrated high accuracy (90.77% training, 83.04% test) and 90.91% sensitivity and 61.11% specificity in external validation. When compared to three radiologists, GoogleNet outperformed in diagnostic accuracy and speed, achieving an AUC of 88.01% and processing cases in 0.001 min. These findings highlight the potential of AI to enhance diagnostic performance and efficiency. Lastly, the explanation provided by the Grad-Cam model precisely localized major lesions. Conclusions: This multimodal-imaging-based deep learning model could well differentiate TS and BS. Deep learning does not need manual feature extraction, selection, or model development, and has great potential in daily clinical practice. Full article
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12 pages, 1954 KB  
Article
Two-Stage Hierarchical Pruning (THP-CNN) of Convolutional Neural Networks for Rapid Pathogenic Bacterial Detection Using High-Resolution Colony Images in Intensive Care Units
by Can Xie and Kefeng Li
Diagnostics 2025, 15(18), 2349; https://doi.org/10.3390/diagnostics15182349 - 16 Sep 2025
Viewed by 750
Abstract
Background/Objectives: Patients in Intensive Care Units (ICUs) have an elevated risk of infection. Accurate identification of pathogenic bacteria is critical for targeted interventions; however, convolutional neural networks (CNNs) face challenges of high computational demands and parameter redundancy. Methods: We developed a [...] Read more.
Background/Objectives: Patients in Intensive Care Units (ICUs) have an elevated risk of infection. Accurate identification of pathogenic bacteria is critical for targeted interventions; however, convolutional neural networks (CNNs) face challenges of high computational demands and parameter redundancy. Methods: We developed a two-stage hierarchical pruning framework for CNN compression (THP-CNN), combining channel importance estimation with receptive field equivalence transformation for a 24-class pathogenic bacteria classification task. Results: THP-CNN (70% pruned) achieves an accuracy of 0.86 with 0.62 M parameters, outperforming ResNet-50 (0.72), MobileNet V2 (0.81), Inception (0.74), and AlexNet (0.62), with the 50% and 60% pruned variants in cross-validation stably maintaining a mean accuracy of 0.79. Conclusions: THP-CNN demonstrates potential for lightweight, real-time bacterial classification, offering a computationally efficient solution for automated pathogen detection. Full article
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