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American Association for the Advancement of Science, Science, 6409(361), 2018

DOI: 10.1126/science.aar3146

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Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

Dissecting the epigenomic footprint Genome-wide epigenetic marks regulate gene expression, but the amount and function of variability in these marks are poorly understood. Working with human-derived samples, Onuchic et al. examined disease-associated genetic variation and sequence-dependent allele-specific methylation at gene regulatory loci. Regulatory sequences within individual chromosomal DNA molecules showed full or no methylation at specific sites corresponding to “on” and “off” switches. Interestingly, methylation did not occur on each DNA molecule, resulting in a variable fraction of methylated chromosomes. This stochastic type of gene regulation was more common for rare genetic variants, which may suggest a role in human disease. Science , this issue p. eaar3146