A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. Garg Paras et al. American journal of human genetics 2020 Sep

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A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.
Garg Paras et al. American journal of human genetics 2020 Sep

Little information exists on the prevalence and distribution of rare epigenetic variation in populations. We performed a survey of methylation profiles from 23,116 individuals. Using a robust outlier approach, we identified 4,452 unique autosomal epivariations, including potentially inactivating promoter methylation events at 384 genes linked to disease.