Scientific Publications

Genome-scale DNA methylation mapping of clinical samples at single-nucleotide resolution.

Publication TypeJournal Article
AuthorsGu, H., Bock C., Mikkelsen TS, Jäger N., Smith ZD, Tomazou E., Gnirke A., Lander E. S., and Meissner A.
AbstractBisulfite sequencing measures absolute levels of DNA methylation at single-nucleotide resolution, providing a robust platform for molecular diagnostics. We optimized bisulfite sequencing for genome-scale analysis of clinical samples: here we outline how restriction digestion targets bisulfite sequencing to hotspots of epigenetic regulation and describe a statistical method for assessing significance of altered DNA methylation patterns. Thirty nanograms of DNA was sufficient for genome-scale analysis and our protocol worked well on formalin-fixed, paraffin-embedded samples.
Year of Publication2010
JournalNature methods
Date Published (YYYY/MM/DD)2010/02/01
ISSN Number1548-7091