British Journal of Research Open Access

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Abstract

A genomic atlas of systemic interindividual epigenetic variation in humans

Fatemeh Babaie

DNA methylation is thought to be an important determinant of human phenotypic variation, but its inherent cell type specificity has impeded progress on this question. At exceptional genomic regions, interindividual variation in DNA methylation occurs systemically. Like genetic variants, systemic interindividual epigenetic variants are stable, can  influence phenotype, and can be assessed in any easily biopsiable DNA sample. We describe an unbiased screen for human genomic regions at which interindividual variation in DNA methylation is not tissue-specific. For each of 10 donors from the NIH Genotype-Tissue Expression(GTEx) program, CpG methylation is measured by deep whole genome bisulfite sequencing of genomic DNA from tissues representing the three germ layer lineages: thyroid (endoderm), heart (mesoderm), and brain (ectoderm).