Disease variants alter transcription factor levels and methylation of their binding sites

Nature Genetics(2016)

Cited 337|Views19
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Abstract
Peter 't Hoen, Lude Franke, Bastiaan Heijmans and colleagues present a combined analysis of methylome and transcriptome data from a large collection of whole-blood samples to infer the downstream effects of disease-associated variants. They identify a large number of trait-associated SNPs influencing methylation of CpG sites in trans , providing insights into the downstream functional effects of many disease-associated variants.
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