Article

A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions

2020-03-26

Abstract excerpt

<h4>ABSTRACT</h4> 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 indivi...

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Literature Corpus work: 171007c5-8adb-5c76-9aff-23de4a8a38b7
DOI: 10.1101/2020.03.25.007864

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