Article
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.
American journal of human genetics - 1 Oct 2020
Garg Paras, Jadhav Bharati, Rodriguez Oscar L, Patel Nihir, Martin-Trujillo Alejandro, Jain Miten, Metsu Sofie, Olsen Hugh, Paten Benedict, Ritz Beate, Kooy R Frank, Gecz Jozef, Sharp Andrew J
Abstract excerpt
There is growing recognition that epivariations, most often recognized as promoter hypermethylation events that lead to gene silencing, are associated with a number of human diseases. However, little information exists on the prevalence and distribution of rare epigenetic variation in the human population. In order to address this, we performed a survey of methylation profiles from 23,116 individuals using the...
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