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

Paras Garg, Bharati Jadhav, Oscar L. Rodriguez, Nihir Patel, Alejandro Martin-Trujillo, Miten Jain, Sofie Metsu, Hugh E. Olsen, Benedict Paten, Beate Ritz, R. Frank Kooy, Jozef Gécz, Andrew J. Sharp

2020The American Journal of Human Genetics68 citationsDOIOpen Access PDF

Topics & Concepts

EpigeneticsBiologyGeneticsDNA methylationHuman genomePopulationMethylationGeneGenomeCopy-number variationComputational biologyGene expressionMedicineEnvironmental healthEpigenetics and DNA MethylationGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions | Litcius