Abstract
DNA methylation is an important epigenetic modification of DNAsequences, which could potentially affect gene expression and final phenotypes. Abnormal methylation has been discovered in manytypes of cancers and other human diseases. Detecting differentially methylated loci (DML) and differentially methylated regions (DMRs) is critical in understanding the genetic mechanism of cancer and identifying biomarkers and treatment targets, which could be used for cancer diagnosis, prognosis, prevention, and treatment. Next-generation sequencing (NGS) has been widely used to generate genome-wide methylation data. These data provide unique challenges in the differential methylation analysis at genomic levels. In this paper, we discuss these challenges and some statistical and computational approaches for detecting DML and DMRs for NGS methylation data.
| Original language | English (US) |
|---|---|
| Title of host publication | Next Generation Sequencing in Cancer Research, Volume 2 |
| Subtitle of host publication | From Basepairs to Bedsides |
| Publisher | Springer International Publishing |
| Pages | 229-238 |
| Number of pages | 10 |
| ISBN (Electronic) | 9783319158112 |
| ISBN (Print) | 9783319158105 |
| DOIs | |
| State | Published - Jan 1 2015 |
Keywords
- DNA methylation
- Differential methylation
- Epigenetic association
- Epigenetic marker
- Next-generation sequencing
ASJC Scopus subject areas
- Medicine(all)
- Biochemistry, Genetics and Molecular Biology(all)