Expert Review of Molecular Diagnostics最新文献_第2页

LINC00673 upregulation and rs9914618 polymorphism: associations with risk and prognosis of lung squamous cell carcinoma. LINC00673上调和rs9914618多态性：与肺鳞状细胞癌的风险和预后相关

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-26 DOI: 10.1080/14737159.2026.2719602

Xingshu Zhang, Fen Wang, Licai Zhang, Liquan Qiu, Jijun Xue

{"title":"LINC00673 upregulation and rs9914618 polymorphism: associations with risk and prognosis of lung squamous cell carcinoma.","authors":"Xingshu Zhang, Fen Wang, Licai Zhang, Liquan Qiu, Jijun Xue","doi":"10.1080/14737159.2026.2719602","DOIUrl":"10.1080/14737159.2026.2719602","url":null,"abstract":"Background: The specific effect of the LINC00673 rs9914618 single nucleotide polymorphism (SNP) on lung squamous cell carcinoma (LUSC) remains unclear. This study aims to evaluate its association with LUSC susceptibility and prognosis.Materials and methods: We recruited 305 LUSC patients and 336 healthy controls. LINC00673 expression was measured by qRT-PCR. The rs9914618 genotype was determined using TaqMan assays. Disease-free survival was estimated by Kaplan-Meier analysis. Multivariate Cox regression yielded hazard ratios with 95% confidence intervals.Results: LINC00673 expression was significantly upregulated in LUSC tissues and serum relative to the control group. The A allele at rs9914618 was positively associated with increased LINC00673 transcription. Carriers of the A allele or AA genotype had a higher risk of LUSC. Patients with GA or AA genotypes showed more severe clinicopathological features and lower five‑year survival rates. The rs9914618 polymorphism was validated as an independent prognostic factor.Conclusion: The LINC00673 rs9914618 polymorphism may serve as a potential prognostic factor for LUSC, showing significant associations with patient outcomes and risk stratification.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-10"},"PeriodicalIF":4.3,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148817832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dual germline BRCA and mismatch-repair mutations: a narrative review. 双种系BRCA和错配修复突变：叙述回顾。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-21 DOI: 10.1080/14737159.2026.2721422

Rui Chen, Chuang Ge, Fang Yuan, Kaiwen Fu, Xingtao Long, Ke Wu, Lifeng Wang

{"title":"Dual germline BRCA and mismatch-repair mutations: a narrative review.","authors":"Rui Chen, Chuang Ge, Fang Yuan, Kaiwen Fu, Xingtao Long, Ke Wu, Lifeng Wang","doi":"10.1080/14737159.2026.2721422","DOIUrl":"https://doi.org/10.1080/14737159.2026.2721422","url":null,"abstract":"Introduction: Multilocus inherited neoplasia alleles syndrome (MINAS) can pair a germline pathogenic BRCA1/2 variant with a pathogenic mismatch-repair (MMR) variant, but current guidelines manage the two inherited pathways separately.Areas covered: We searched PubMed, Embase, the American Society of Clinical Oncology Library, European Society for Medical Oncology OncologyPro, and Society of Gynecologic Oncology library from 2011 to 17 May 2026. It distinguishes a dual germline carrier from single-track, dual-defective, and biomarker-discordant tumors. For mismatch-repair immunohistochemistry (IHC)-deficient but microsatellite-stable results, particularly with isolated MSH6 loss, we propose technical review followed by a validated orthogonal assay when needed. The evidence for poly(ADP-ribose) polymerase inhibitor (PARPi) plus immune checkpoint inhibitor (ICI) therapy is assessed through the cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) hypothesis and TOPACIO, MEDIOLA, and DUO-E.Expert opinion: Management should combine gene-specific surveillance with tumor-level biomarkers and shared decision-making. Treatment should not be inferred from dual germline status alone, and no phase III trial has predefined dual carriers as a treatment stratum.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-16"},"PeriodicalIF":4.3,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148790061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Analytical and clinical performance of a novel DiaRD CMV qPCR assay for cytomegalovirus DNA quantification: a comparative study with the artus CMV RG PCR kit. 用于巨细胞病毒DNA定量的新型DiaRD巨细胞病毒qPCR检测的分析和临床性能：与artus巨细胞病毒RG PCR试剂盒的比较研究

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-20 DOI: 10.1080/14737159.2026.2721430

Bengul Durmaz, Tuba Dal, Hande Toptan, Mehmet Koroglu, Rıza Durmaz

{"title":"Analytical and clinical performance of a novel DiaRD CMV qPCR assay for cytomegalovirus DNA quantification: a comparative study with the artus CMV RG PCR kit.","authors":"Bengul Durmaz, Tuba Dal, Hande Toptan, Mehmet Koroglu, Rıza Durmaz","doi":"10.1080/14737159.2026.2721430","DOIUrl":"https://doi.org/10.1080/14737159.2026.2721430","url":null,"abstract":"Background: Cytomegalovirus (CMV) remains a major cause of morbidity in transplant recipients and patients with hematological malignancies, requiring accurate viral load monitoring for clinical management. This study evaluated the performance of the novel DiaRD CMV qPCR assay compared with the reference artus CMV RG PCR Kit.Research design and methods: A total of 180 anonymized plasma samples, including 47 CMV-positive and 133 CMV-negative specimens, were retrospectively analyzed. Diagnostic accuracy, quantitative agreement, analytical specificity, and precision were assessed.Results: The DiaRD assay correctly identified 45 of 47 positive samples, yielding a sensitivity of 95.7% and specificity of 96.2%, with an overall accuracy of 96.1%. Positive and negative predictive values were 90.0% and 98.5%, respectively. Quantitative analysis demonstrated strong correlation between assays (R2 = 0.880, r = 0.938, p < 0.0001). Bland-Altman analysis showed good agreement, with a mean difference of -0.009 log10 IU/mL (SD: 0.272). Among concordant positive samples, 40 showed differences of <0.5 log10 IU/mL. No cross-reactivity was detected with other tested pathogens. Precision studies demonstrated coefficients of variation below 2% for Ct values and ≤6.81% for viral loads.Conclusion: Overall, the DiaRD CMV qPCR assay demonstrated reliable analytical and diagnostic performance, supporting its suitability for routine CMV DNA quantification in clinical laboratories.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-11"},"PeriodicalIF":4.3,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148790072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Theranostic innovation in infectious lung diseases: integrating biotechnology and nanotechnology for precision medicine. 感染性肺部疾病的治疗创新：整合生物技术和纳米技术用于精准医学。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-11 DOI: 10.1080/14737159.2026.2714060

Ameneh Jafari, Asma Manzari-Tavakoli, Maryam Manzari Tavakoli, Seyed MohammadReza Hashemian, Hamidreza Jamaati, Maryam Akhtari, Payam Tabarsi, Marzieh Omrani

{"title":"Theranostic innovation in infectious lung diseases: integrating biotechnology and nanotechnology for precision medicine.","authors":"Ameneh Jafari, Asma Manzari-Tavakoli, Maryam Manzari Tavakoli, Seyed MohammadReza Hashemian, Hamidreza Jamaati, Maryam Akhtari, Payam Tabarsi, Marzieh Omrani","doi":"10.1080/14737159.2026.2714060","DOIUrl":"10.1080/14737159.2026.2714060","url":null,"abstract":"Introduction: Infectious lung diseases, such as pneumonia, tuberculosis, COVID-19, influenza, and emerging fungal infections, are major causes of illness and death worldwide. Traditional methods have serious limitations such as diagnostic delays, antimicrobial resistance, and non-targeted therapy. Theranostics, unifying diagnosis and therapy, offers a precision medicine solution for real-time, individualized pulmonary care.Areas covered: This review explores biotechnological and nanotechnological synergies in pulmonary theranostics. Biotech tools include CRISPR-Cas for pathogen detection, non-coding RNAs (ncRNAs) as biomarkers/modulators, and monoclonal antibodies (mAbs) for targeted neutralization. Nanotech platforms feature nanosensors and SERS for early diagnosis, plus diverse nanocarriers enabling targeted drug/gene/vaccine delivery, controlled release, and imaging. Case studies across infectious lung diseases demonstrate real-world applications. We also address safety, manufacturing scalability, regulatory complexity, and economic barriers.Expert opinion: This convergence marks a paradigm shift toward personalized pulmonary medicine. Future success demands smart, multi-stimuli-responsive nanoplatforms, AI-driven predictive modeling, and closed-loop systems linking real-time diagnostics to adaptive therapies. Translational priorities include standardized preclinical models, clear combination-product regulations, and cost-effectiveness data. Ultimately, interdisciplinary collaboration among material scientists, molecular biologists, clinicians, and regulatory experts is essential to bridge bench-to-bedside gaps and realize clinical impact.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-24"},"PeriodicalIF":4.3,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Navigating PD-L1 testing in immuno-oncology: analytical robustness, clinical validation, and the role of the VENTANA SP263 assay. 在免疫肿瘤学中导航PD-L1检测：分析稳健性、临床验证和VENTANA SP263检测的作用

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-06-29 DOI: 10.1080/14737159.2026.2695788

Giuseppe D'Abbronzo, Stefano Lucà, Alessandro Cioce, Anna Diluvio, Pasquale Cretella, Maria Cristina Sibillo, Cecilia Salzillo, Valeria Masola, Renato Franco

{"title":"Navigating PD-L1 testing in immuno-oncology: analytical robustness, clinical validation, and the role of the VENTANA SP263 assay.","authors":"Giuseppe D'Abbronzo, Stefano Lucà, Alessandro Cioce, Anna Diluvio, Pasquale Cretella, Maria Cristina Sibillo, Cecilia Salzillo, Valeria Masola, Renato Franco","doi":"10.1080/14737159.2026.2695788","DOIUrl":"10.1080/14737159.2026.2695788","url":null,"abstract":"Introduction: PD-L1 expression today represents a crucial biomarker in the selection of patients eligible for immune checkpoint inhibitor therapies (PD-1/PD-L1), particularly in tumors such as NSCLC, urothelial carcinoma, and TNBC. Its role in modulating immune response and the tumor microenvironment makes this topic of growing relevance in clinical oncological practice.Areas covered: This review examines the most recent literature on histological and plasma PD-L1 expression, comparative studies between antibodies and IHC cutoffs, integration of liquid biopsy and new biomarkers (e.g. CPS, ctDNA). A targeted literature search was conducted using PubMed/MEDLINE, Scopus, and Web of Science, covering publications from January 2010 to March 2025. Meta-analyses and clinical studies related to TNBC, NSCLC, and urothelial carcinoma are included, with insights into therapeutic resistance and combination strategies.Expert opinion: While SP263 demonstrates strong analytical performance and reproducibility, analytical concordance does not equate to clinical interchangeability. PD-L1 testing should remain assay-, tissue-, and indication-specific, supported by regulatory approval and clinical outcome data. Future integration of digital tools and multimodal biomarkers may improve standardization and predictive accuracy.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"643-656"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148316518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genomic profiling as an option for ovarian cancer diagnostics. 基因组分析作为卵巢癌诊断的一种选择。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-07-21 DOI: 10.1080/14737159.2026.2700342

Elisa De Paolis, Giuseppina Raspaglio, Marta De Donato, Eugenia Tulli, Ilaria Mattei, Angelo Minucci

{"title":"Genomic profiling as an option for ovarian cancer diagnostics.","authors":"Elisa De Paolis, Giuseppina Raspaglio, Marta De Donato, Eugenia Tulli, Ilaria Mattei, Angelo Minucci","doi":"10.1080/14737159.2026.2700342","DOIUrl":"10.1080/14737159.2026.2700342","url":null,"abstract":"Introduction: Ovarian cancer (OC) is a highly heterogeneous and lethal gynecological malignancy. Precision oncology has shifted the management paradigm to comprehensive molecular profiling. Genomic-based diagnostics are now a clinical necessity for accurate prognostic stratification and the rational selection of targeted therapeutics, such as PARP and immune checkpoint inhibitors.Areas covered: This review evaluates current literature regarding the distinct genomic landscapes defining OC histotypes to underlined the role of molecular profiling in the diagnostic field of OC. We discuss the practical implementation, technical aspect, and clinical validity of the main molecular diagnostic platforms, focusing on tissue-based Comprehensive Genomic Profiling (CGP) and Homologous Recombination Deficiency (HRD). Furthermore, we explore emerging translational data on liquid biopsy (LBx) applications.Expert opinion: While current tissue-based methodologies provide critical baseline data, the OC diagnostic paradigm must pivot from static testing to proactive and longitudinal tracking. Integrating advanced LBx approaches enables a real-time monitoring of dynamic parameters as minimal residual disease (MRD) and acquired resistance. Integrating these dynamic blood-based assays with multi-omic profiling and artificial intelligence (AI)-driven tools allows a full understanding of the complex tumor behavior.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"681-694"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148411002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Extracellular vesicles as diagnostic and prognostic biomarkers in non-small cell lung cancer. 细胞外囊泡作为非小细胞肺癌诊断和预后的生物标志物。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-06-23 DOI: 10.1080/14737159.2026.2693700

Shayista Akbar, Queenie Fernandes, Zeenath Safira Khaja Mohamed Yoosuf, Reem Elasad, Laila Assami, Karama Makni-Maalej, Varghese Inchakalody, Mariam Al-Muftah, Shahab Uddin, Maysaloun Merhi, Aamir Ahmad, Said Dermime

{"title":"Extracellular vesicles as diagnostic and prognostic biomarkers in non-small cell lung cancer.","authors":"Shayista Akbar, Queenie Fernandes, Zeenath Safira Khaja Mohamed Yoosuf, Reem Elasad, Laila Assami, Karama Makni-Maalej, Varghese Inchakalody, Mariam Al-Muftah, Shahab Uddin, Maysaloun Merhi, Aamir Ahmad, Said Dermime","doi":"10.1080/14737159.2026.2693700","DOIUrl":"10.1080/14737159.2026.2693700","url":null,"abstract":"Introduction: Non-small cell lung cancer (NSCLC) remains the leading cause of cancer-related mortality worldwide, largely due to late-stage diagnosis and limited availability of reliable biomarkers. Extracellular vesicles (EVs) are membrane-bound nanoparticles released by cells that carry nucleic acids, proteins, and lipids reflective of their cellular origin. Their stability and accessibility through minimally invasive sampling make them promising liquid biopsy biomarkers.Areas covered: This review summarizes current evidence supporting EVs as diagnostic and prognostic biomarkers in NSCLC. We discuss the clinical relevance of EV-associated molecular signatures, including miRNAs, other non-coding RNAs, and proteins, in early detection, disease stratification, and outcome prediction. Recent advances in EV isolation and characterization technologies, particularly microfluidic and high-throughput platforms, are highlighted. We also examine key barriers to clinical translation, including biological heterogeneity, methodological variability, and the lack of standardized protocols.Expert opinion: EVs have the potential to transform NSCLC management by enabling minimally invasive diagnosis, real-time disease monitoring, and personalized treatment strategies. However, widespread clinical implementation requires standardized methodologies, improved tumor-specific EV enrichment, and large-scale validation studies. Future integration of multi-omics, artificial intelligence, and advanced detection technologies is expected to enhance biomarker performance and facilitate the incorporation of EV-based liquid biopsy approaches into precision oncology.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"667-679"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148294037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Artificial intelligence in molecular diagnostics for pandemic preparedness. 大流行预防中的分子诊断中的人工智能。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-07-06 DOI: 10.1080/14737159.2026.2697900

Ketul Sagar, Disha Mukherjee, Behrouz Alizadeh Savareh, Cheikh Talibouya Toure, Arianna Ceruti, Prakash Ghosh, Manfred Weidmann, Uwe Truyen, Ahmed Abd El Wahed, Rea Maja Kobialka

{"title":"Artificial intelligence in molecular diagnostics for pandemic preparedness.","authors":"Ketul Sagar, Disha Mukherjee, Behrouz Alizadeh Savareh, Cheikh Talibouya Toure, Arianna Ceruti, Prakash Ghosh, Manfred Weidmann, Uwe Truyen, Ahmed Abd El Wahed, Rea Maja Kobialka","doi":"10.1080/14737159.2026.2697900","DOIUrl":"10.1080/14737159.2026.2697900","url":null,"abstract":"Introduction: Molecular diagnostics focusing on the detection and analysis of nucleic acids are indispensable tools for early pathogen identification, transmission monitoring, and genomic surveillance during pandemics. Recent technological advances have broadened the diagnostic landscape, incorporating PCR-based methods, isothermal amplification, high-CRISPR-based amplification detection, and sequencing. Despite their diagnostic potential, widespread implementation remains limited by high validation costs, time and logistical constraints, the need for specialized professional knowledge, and a lack of adaptability in resource-limited settings. Artificial intelligence (AI) is increasingly recognized as a promising but challenging approach, offering tools that streamline assay development, automate data interpretation, and optimize real-time diagnostic performance.Areas covered: This review introduces recently published AI tools with potential to enhance the in-silico design validation process of oligonucleotides for molecular assays. These cover tools for initial assay design and optimization to validation and continuous assay updates. The limitations, including concerns regarding data accuracy, the lack of transparency in data processing ('black box' models), and unresolved licensing and regulatory issues, are highlighted for each tool and as expert opinion.Expert opinion: Collectively, these challenges currently confine most AI-based approaches to research settings and prevent their routine implementation in clinical molecular diagnostics. Their widespread adoption depends on addressing remaining technical, regulatory, and practical challenges.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"709-718"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148374951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Bacterial respiratory infections in children: advances in diagnostic strategies. 细菌性呼吸道感染：诊断策略的进展。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-07-04 DOI: 10.1080/14737159.2026.2698808

Carolina Gentili, Patrick M Meyer Sauteur, Danilo Buonsenso

{"title":"Bacterial respiratory infections in children: advances in diagnostic strategies.","authors":"Carolina Gentili, Patrick M Meyer Sauteur, Danilo Buonsenso","doi":"10.1080/14737159.2026.2698808","DOIUrl":"10.1080/14737159.2026.2698808","url":null,"abstract":"Introduction: Respiratory tract infections (RTIs) are among the most common causes of medical consultation in children. Although the majority of upper respiratory tract infections are viral and self-limiting, bacterial pathogens remain responsible for a relevant proportion of cases and may require targeted antimicrobial therapy. Accurate microbiological diagnosis is therefore essential to guide clinical management and support antimicrobial stewardship.Areas covered: This review discusses the etiology and clinical presentation of pediatric respiratory infections and examines current diagnostic approaches, including traditional culture-based methods and nucleic acid amplification tests (NAATs). The advantages of molecular diagnostics-such as rapid turnaround time, high sensitivity, and improved pathogen detection-are highlighted alongside their role in antimicrobial stewardship and public health surveillance. At the same time, important limitations are explored, including difficulties in distinguishing colonization from active infection, challenges in polymicrobial detection, absence of host-response information, and barriers related to cost and accessibility. Emerging technologies and future perspectives in pediatric molecular diagnostics are also addressed.Expert opinion: While molecular diagnostics have transformed pathogen detection, their clinical interpretation remains complex. Future diagnostic strategies should integrate molecular data with quantitative pathogen measurements, host-response biomarkers, and clinical phenotyping to better distinguish infection from colonization. Interdisciplinary research, real-world implementation studies, and cost-effectiveness evaluations will be essential to translate technological advances into meaningful improvements in pediatric infectious disease care.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"657-665"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148381820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Explainable epigenetic aging clocks: an overview of existing AI models and approaches. 可解释的表观遗传衰老时钟：现有人工智能模型和方法的概述。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-06-23 DOI: 10.1080/14737159.2026.2693031

Adiv A Johnson, Maxim N Shokhirev

{"title":"Explainable epigenetic aging clocks: an overview of existing AI models and approaches.","authors":"Adiv A Johnson, Maxim N Shokhirev","doi":"10.1080/14737159.2026.2693031","DOIUrl":"10.1080/14737159.2026.2693031","url":null,"abstract":"Introduction: There is a growing demand to make epigenetic aging clocks that are interpretable and actionable. Here, we identify and describe explainable artificial intelligence (XAI) epigenetic clocks that convert CpGs into higher-level abstractions using deep learning.Areas covered: By combing through PubMed, this narrative review identifies six different XAI clocks: XAI-AGE, DL-XAI, EpInflammAge, PathwayAge, EXP.REACTOME, and EXP.TFT. XAI-AGE, DL-XAI, PathwayAge, EXP.REACTOME, and EXP.TFT provide explainability by leveraging the fact that a subset of DNA methylation sites are annotated to genes. From here, genes are converted into biological pathways or a protein-protein interaction network. Conversely, the XAI clock EpInflammAge works by taking methylation-based predictors of circulating chemokines and cytokines - referred to as synthetic proxies - and feeding these as inputs into a deep learning model.Expert opinion: By evaluating and comparing extant XAI clocks, it is clear that explainability is compatible with the ability to make accurate age predictions that are associated with meaningful health signals. The pathway- or network-level models are, however, more difficult to interpret and less actionable than the XAI clock based on synthetic proxies. Explainability and actionability could be improved by only incorporating robust estimators of well-understood biomarkers or by exclusively including tangible, easy-to-understand biological pathways.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"695-707"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148276700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0