A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

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 popu...

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Publicado en:Am J Hum Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7536611/
https://ncbi.nlm.nih.gov/pubmed/32937144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.08.019
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