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As an important epigenetic modification system, genomic DNA methylation plays an important role in regulating gene expression, cell differentiation and various other life processes.

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DNA methylation is one of the earliest methods of apparent expression of genes, and plays an important role in maintaining chromosome structure, X chromosome inactivation, gene imprinting, and tumorigenesis. Understanding the mechanisms and functions of DNA methylation and differences in different tissues or individuals will have a profound impact on human health and disease research; genomic DNA methylation as an important epigenetic modification system plays a very important role in genes expression regulation, cell differentiation, and various other life processes.

Based on the important role of genomic DNA methylation in life and the clinical significance of human peripheral blood mononuclear cells, BGI initiated and completed human peripheral blood mononuclear cells following the “1st Yanhuang” program. The genome-wide methylation map was developed, and the methylation patterns of various gene elements and genomic elements were comprehensively analyzed, and allele-specific DNA methylation was also compared and multiple candidate imprinted genes were found. . Related research results were published in PLoS Biology on November 9, 2010. The successful application of next-generation sequencing technology (whole genome bisulfite sequencing) to epigenetic research not only provides an efficient and low-cost strategy for methylation pattern analysis, but also provides a comprehensive resource for future epigenetic study and will greatly promote disease epigenetics research and clinical application.

The data for this study is part of the International Human Appreciation Group Program and has been uploaded to the National Center for Biotechnology Information (NCBI) database. Yanhuang Methylation Project is part of the “Yanhuang Project” research project initiated by Shenzhen BGI Life Science Research Institute (formerly “BGI Shenzhen”). The “Yanhuang Project” is planned to complete 100 Chinese (East Asia) genomes within 3 years, to establish high-density, high-resolution human genetic maps of East Asia ethnic origin and to better understand the relationship between Asian genes and complex diseases.

Related publication:

Yingrui Li, Jingde Zhu, Geng Tian, et al. The DNA Methylome of Human Peripheral Blood Mononuclear Cells PLoS Biology 2010, 8(11).

Human genome methylation study