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. Author manuscript; available in PMC: 2011 Apr 1.
Published in final edited form as: Nat Biotechnol. 2010 Oct;28(10):1049–1052. doi: 10.1038/nbt1010-1049

Table 1.

How epigenomics is transforming the search for genetic causes of common human disease

Epigenome anatomy Possible disease link New approach to common disease search
Environmentally driven epigenetic variation Epigenome changes in absence of sequence variant Methylome arrays, capture bisulfite sequencing, ChIPseq
Regulatorysite or expression per se Noncoding RNAs RNAseq and methods above
Key disease sequences unlinked to target genes Intra-and interchromosomal interactions Chromatin network mapping; replication timing?
Regulatory sequence distant from gene Co-regulated gene clusters Genome-scale methylation; chromatin mapping
Sequence-defined methylation Sequence variants controlling epigenome Linked GWAS and epigenome studies
New class of Variably Methylated Regions Sequence variants controlling epigenomic variance perse New statistics for reexamining and integrating GWAS
Domain disruption, anchoring proteins LOCKs and LADs Native chromatin whole-genome analysis