Abstract
DNA methylation plays an important role in biological processes in human health and disease. Recent technological advances allow unbiased whole-genome DNA methylation (methylome) analysis to be carried out on human cells. Using whole-genome bisulfite sequencing at 24.7-fold coverage (12.3-fold per strand), we report a comprehensive (92.62%) methylome and analysis of the unique sequences in human peripheral blood mononuclear cells (PBMC) from the same Asian individual whose genome was deciphered in the YH project. PBMC constitute an important source for clinical blood tests world-wide. We found that 68.4% of CpG sites and 80% displayed allele-specific expression (ASE). These data demonstrate that ASM is a recurrent phenomenon and is highly correlated with ASE in human PBMCs. Together with recently reported similar studies, our study provides a comprehensive resource for future epigenomic research and confirms new sequencing technology as a paradigm for large-scale epigenomics studies.
Original language | English |
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Journal | PLoS - Biology |
Volume | 8 |
Issue number | 11 |
Pages (from-to) | e1000533-e1000533 |
ISSN | 1544-9173 |
DOIs | |
Publication status | Published - Nov 2010 |
Keywords
- Alleles
- CpG Islands
- DNA Methylation
- Haploidy
- Humans
- Leukocytes, Mononuclear
- RNA, Untranslated
- Sequence Alignment