Song Pengtao, Li Biaoru
Department of Pathology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou 313000, China.
School of Medicine, Case Western Reserve University, 10900 Euclid Ave, Cleveland, OH 44106, USA.
Diagnostics (Basel). 2025 Jun 17;15(12):1539. doi: 10.3390/diagnostics15121539.
Following the application of epigenetic and epigenomics research into tumor diseases, cardiovascular disease, diabetes, hereditary diseases, and rare diseases, in vitro diagnostics (IVD) epigenetic and epigenomics are increasingly employed for those patients. Here, we review a clinical sampling of epigenetics and epigenomics from patients. We then present procedures, including the detection procedure of clinical epigenetic approaches from clinical samples, clinical epigenomic methods applied to those samples, the small cell number of epigenetics, and epigenomics. Finally, we present the current IVD of epigenetics and epigenomics used for clinical analysis and diagnosis, along with the development of approaches. To improve clinical study and diagnosis, we also introduce clinical research and clinical applications to develop a more comprehensive strategy to maximize the sensitivity and specificity of the epigenetics and epigenomics analysis and diagnosis.
随着表观遗传学和表观基因组学研究应用于肿瘤疾病、心血管疾病、糖尿病、遗传性疾病和罕见疾病,体外诊断(IVD)中的表观遗传学和表观基因组学越来越多地应用于这些患者。在此,我们回顾了来自患者的表观遗传学和表观基因组学的临床样本。然后我们介绍了相关程序,包括从临床样本中检测临床表观遗传学方法的程序、应用于这些样本的临床表观基因组学方法、表观遗传学和表观基因组学的少量细胞样本。最后,我们介绍了目前用于临床分析和诊断的表观遗传学和表观基因组学的体外诊断方法以及方法的发展。为了改善临床研究和诊断,我们还介绍了临床研究和临床应用,以制定更全面的策略,最大限度地提高表观遗传学和表观基因组学分析与诊断的灵敏度和特异性。