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Nat Methods DOI:10.1038/nmeth.1414

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

Publication TypeJournal Article
Year of Publication2010
AuthorsGu, H, Bock, C, Mikkelsen, TS, Jäger, N, Smith, ZD, Tomazou, E, Gnirke, A, Lander, ES, Meissner, A
JournalNat Methods
Volume7
Issue2
Pages133-6
Date Published2010 Feb
ISSN1548-7105
KeywordsBase Sequence, Chromosome Mapping, Colonic Neoplasms, DNA Methylation, DNA, Neoplasm, Genetic Testing, Humans, Molecular Sequence Data, Nucleotides, Reproducibility of Results, Sensitivity and Specificity
Abstract

Bisulfite 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.

URLhttp://dx.doi.org/10.1038/nmeth.1414
DOI10.1038/nmeth.1414
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/20062050?dopt=Abstract

Alternate JournalNat. Methods
PubMed ID20062050
PubMed Central IDPMC2860480
Grant ListR01 HG004401 / HG / NHGRI NIH HHS / United States
U54 HG003067 / HG / NHGRI NIH HHS / United States
R01 HG004401-03 / HG / NHGRI NIH HHS / United States
U01ES017155 / ES / NIEHS NIH HHS / United States
R01HG004401 / HG / NHGRI NIH HHS / United States
U54HG03067 / HG / NHGRI NIH HHS / United States
U01 ES017155-02 / ES / NIEHS NIH HHS / United States
U01 ES017155 / ES / NIEHS NIH HHS / United States
U54 HG003067-08 / HG / NHGRI NIH HHS / United States