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Fig. 3 | Genome Biology

Fig. 3

From: Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs

Fig. 3

Gains of ASM in cancers due to allele-specific GOM at loci in poised chromatin. a Graph showing enrichment in the poised promoter state as defined using ENCODE chromatin state segmentation by HMM. Although enrichment in poised promoter state is observed among ASM regions in general, this enrichment is dramatically increased among the subset of loci that show allele-specific GOM in cancers compared to cell lineage-matched normal samples. b Map of the FOXB1 locus showing an example of allele-specific GOM in multiple myeloma overlapping a CpG-island region with a poised promoter chromatin state (color coded purple). Methylation differences between alleles (index SNP rs62013139) are shown as a genome browser track and as WGBS reads for CD138+ multiple myeloma cells from a bone marrow aspirate, which show strong ASM with hypermethylation of the REF allele, and a paired peripheral blood non-neoplastic B cell sample from the same patient, which shows very weak ASM with slight hypermethylation of the ALT allele

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