Analysis of patient＇s materials like cells or nucleic acids obtained in a minimally invasive or noninvasive manner through the sampling of blood or other body fluids serves as liquid biopsies, which has huge potentia...Analysis of patient＇s materials like cells or nucleic acids obtained in a minimally invasive or noninvasive manner through the sampling of blood or other body fluids serves as liquid biopsies, which has huge potential for numerous diagnostic applications. Circulating cell-free DNA（cfDNA） is explored as a prognostic or predictive marker of liquid biopsies with the improvements in genomic and molecular methods. DNA methylation is an important epigenetic marker known to affect gene expression. cfDNA methylation detection is a very promising approach as abnormal distribution of DNA methylation is one of the hallmarks of many cancers and methylation changes occur early during carcinogenesis. This re？view summarizes the various investigational applications of cfDNA methylation and its oxidized de？rivatives as biomarkers for cancer diagnosis, prenatal diagnosis and organ transplantation monitoring.The review also provides a brief overview of the technologies for cfDNA methylation analysis based on next generation sequencing.展开更多
Background:DNA methylation is a key heritable epigenetic modification that plays a crucial role in transcriptional regulation and therefore a broad range of biological processes.The complex patterns of DNA methylation...Background:DNA methylation is a key heritable epigenetic modification that plays a crucial role in transcriptional regulation and therefore a broad range of biological processes.The complex patterns of DNA methylation highlight the significance of the profiling the DNA methylation landscape.Results:In this review,the main high-throughput detection technologies are summarized,and then the three trends of computational estimation of DNA methylation levels were analyzed,especially the expanding of the methylation data with lower coverage.Furthermore,the detection methods of differential methylation patterns for sequencing and array data were presented.Conclusions:More and more research indicated the great importance of DNA methylation changes across different diseases,such as cancers.Although a lot of enormous progress has been made in understanding the role of DNA methylation,only few methylated genes or functional elements serve as clinically relevant cancer biomarkers.The bottleneck in DNA methylation advances has shifted from data generation to data analysis.Therefore,it is meaningful to develop machine learning models for computational estimation of methylation profiling and identify the potential biomarkers.展开更多
DNA methylation is one of the most signaficant epigenetic events which greatly influence gene activation, gene imprinting, chromatin stability, and so on. The level of methylation in genome and certain regions should ...DNA methylation is one of the most signaficant epigenetic events which greatly influence gene activation, gene imprinting, chromatin stability, and so on. The level of methylation in genome and certain regions should be in a normal range, because any variation would cause physiological dysfunction. In account of essential roles of DNA methylation in the living system, the detection of methylation in both overall genome and specific positions has drawn great interest. So far many biological and chemical methods have been developed to detect DNA methylation. Herein, we summerize some novel methods mainly based on chemical modification and analytic methods in DNA detection.展开更多
基金supported by grants from the National Basic Research Program of China(MOST2016YFC0900301 and 2014CB964900)the National Natural Science Foundation of China(No. 91519325)the Beijing Natural Science Foundation (No. 5162012)
文摘Analysis of patient＇s materials like cells or nucleic acids obtained in a minimally invasive or noninvasive manner through the sampling of blood or other body fluids serves as liquid biopsies, which has huge potential for numerous diagnostic applications. Circulating cell-free DNA（cfDNA） is explored as a prognostic or predictive marker of liquid biopsies with the improvements in genomic and molecular methods. DNA methylation is an important epigenetic marker known to affect gene expression. cfDNA methylation detection is a very promising approach as abnormal distribution of DNA methylation is one of the hallmarks of many cancers and methylation changes occur early during carcinogenesis. This re？view summarizes the various investigational applications of cfDNA methylation and its oxidized de？rivatives as biomarkers for cancer diagnosis, prenatal diagnosis and organ transplantation monitoring.The review also provides a brief overview of the technologies for cfDNA methylation analysis based on next generation sequencing.
基金supported by the National Natural Science Foundation of China(No.61872063)and Shenzhen Science and Technology Program(No.JCYJ20210324140407021).
文摘Background:DNA methylation is a key heritable epigenetic modification that plays a crucial role in transcriptional regulation and therefore a broad range of biological processes.The complex patterns of DNA methylation highlight the significance of the profiling the DNA methylation landscape.Results:In this review,the main high-throughput detection technologies are summarized,and then the three trends of computational estimation of DNA methylation levels were analyzed,especially the expanding of the methylation data with lower coverage.Furthermore,the detection methods of differential methylation patterns for sequencing and array data were presented.Conclusions:More and more research indicated the great importance of DNA methylation changes across different diseases,such as cancers.Although a lot of enormous progress has been made in understanding the role of DNA methylation,only few methylated genes or functional elements serve as clinically relevant cancer biomarkers.The bottleneck in DNA methylation advances has shifted from data generation to data analysis.Therefore,it is meaningful to develop machine learning models for computational estimation of methylation profiling and identify the potential biomarkers.
基金the National Natural Science Foundation of China (90813031, 30973605, 21072155 & 20802055)National Key Foundation for Infectious Diseases (Protection and treatment of AIDs, virus hepatitis, 2008ZX10003-005)+1 种基金Open funding of the State Key Laboratory of Bioorganic and Natural Products Chemistry, Shanghai Institute of Organic Chemistry, the Chinese Academy of Sciences, the Fundamental Research Funds for the Central Universitiesthe 111 Project
文摘DNA methylation is one of the most signaficant epigenetic events which greatly influence gene activation, gene imprinting, chromatin stability, and so on. The level of methylation in genome and certain regions should be in a normal range, because any variation would cause physiological dysfunction. In account of essential roles of DNA methylation in the living system, the detection of methylation in both overall genome and specific positions has drawn great interest. So far many biological and chemical methods have been developed to detect DNA methylation. Herein, we summerize some novel methods mainly based on chemical modification and analytic methods in DNA detection.
